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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-10829038-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10829038&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10829038,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001005360.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Thr687Thr",
"transcript": "NM_001005361.3",
"protein_id": "NP_001005361.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 870,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389253.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005361.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Thr687Thr",
"transcript": "ENST00000389253.9",
"protein_id": "ENSP00000373905.4",
"transcript_support_level": 5,
"aa_start": 687,
"aa_end": null,
"aa_length": 870,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001005361.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389253.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Thr687Thr",
"transcript": "ENST00000355667.11",
"protein_id": "ENSP00000347890.6",
"transcript_support_level": 1,
"aa_start": 687,
"aa_end": null,
"aa_length": 870,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355667.11"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Thr687Thr",
"transcript": "ENST00000585892.5",
"protein_id": "ENSP00000468734.1",
"transcript_support_level": 1,
"aa_start": 687,
"aa_end": null,
"aa_length": 869,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585892.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2049G>T",
"hgvs_p": "p.Thr683Thr",
"transcript": "ENST00000359692.10",
"protein_id": "ENSP00000352721.6",
"transcript_support_level": 1,
"aa_start": 683,
"aa_end": null,
"aa_length": 866,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359692.10"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2154G>T",
"hgvs_p": "p.Thr718Thr",
"transcript": "ENST00000957427.1",
"protein_id": "ENSP00000627486.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 900,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957427.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2136G>T",
"hgvs_p": "p.Thr712Thr",
"transcript": "ENST00000916585.1",
"protein_id": "ENSP00000586644.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 895,
"cds_start": 2136,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916585.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2124G>T",
"hgvs_p": "p.Thr708Thr",
"transcript": "ENST00000957420.1",
"protein_id": "ENSP00000627479.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 891,
"cds_start": 2124,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957420.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2091G>T",
"hgvs_p": "p.Thr697Thr",
"transcript": "ENST00000957428.1",
"protein_id": "ENSP00000627487.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 879,
"cds_start": 2091,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957428.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2079G>T",
"hgvs_p": "p.Thr693Thr",
"transcript": "ENST00000908373.1",
"protein_id": "ENSP00000578432.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 876,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908373.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2079G>T",
"hgvs_p": "p.Thr693Thr",
"transcript": "ENST00000908376.1",
"protein_id": "ENSP00000578435.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 875,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908376.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2076G>T",
"hgvs_p": "p.Thr692Thr",
"transcript": "ENST00000957426.1",
"protein_id": "ENSP00000627485.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 875,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957426.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2070G>T",
"hgvs_p": "p.Thr690Thr",
"transcript": "ENST00000908381.1",
"protein_id": "ENSP00000578440.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 873,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908381.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2073G>T",
"hgvs_p": "p.Thr691Thr",
"transcript": "ENST00000957430.1",
"protein_id": "ENSP00000627489.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 873,
"cds_start": 2073,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957430.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2070G>T",
"hgvs_p": "p.Thr690Thr",
"transcript": "ENST00000957419.1",
"protein_id": "ENSP00000627478.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 872,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957419.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Thr687Thr",
"transcript": "NM_001005360.3",
"protein_id": "NP_001005360.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 870,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005360.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Thr687Thr",
"transcript": "NM_001190716.2",
"protein_id": "NP_001177645.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 869,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190716.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Thr687Thr",
"transcript": "ENST00000957413.1",
"protein_id": "ENSP00000627472.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 869,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957413.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Thr686Thr",
"transcript": "ENST00000957416.1",
"protein_id": "ENSP00000627475.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 869,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957416.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Thr686Thr",
"transcript": "ENST00000957417.1",
"protein_id": "ENSP00000627476.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 869,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957417.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2052G>T",
"hgvs_p": "p.Thr684Thr",
"transcript": "ENST00000908375.1",
"protein_id": "ENSP00000578434.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 867,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908375.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
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{
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],
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},
{
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],
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"exon_count": 1,
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"biotype": "miRNA",
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},
{
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"biotype": "pseudogene",
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},
{
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],
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"gene_symbol": "MIR6793",
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"transcript": "unassigned_transcript_3223",
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},
{
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],
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"biotype": "miRNA",
"feature": "unassigned_transcript_3224"
}
],
"gene_symbol": "DNM2",
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"dbsnp": "rs149164657",
"frequency_reference_population": 6.847345e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84735e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.92,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001005360.3",
"gene_symbol": "DNM2",
"hgnc_id": 2974,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Thr687Thr"
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{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_106851.1",
"gene_symbol": "MIR6793",
"hgnc_id": 50251,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*3G>T",
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}
],
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate B",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Charcot-Marie-Tooth disease dominant intermediate B",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}