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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: 15-75380702-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75380702&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75380702,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000394947.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "NM_001145358.2",
"protein_id": "NP_001138830.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3611,
"cdna_end": null,
"cdna_length": 6723,
"mane_select": "ENST00000394947.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "ENST00000394947.8",
"protein_id": "ENSP00000378402.3",
"transcript_support_level": 1,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3611,
"cdna_end": null,
"cdna_length": 6723,
"mane_select": "NM_001145358.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "ENST00000360439.8",
"protein_id": "ENSP00000353622.4",
"transcript_support_level": 1,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "ENST00000394949.8",
"protein_id": "ENSP00000378403.4",
"transcript_support_level": 1,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3569,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3325C>A",
"hgvs_p": "p.Arg1109Arg",
"transcript": "ENST00000704310.1",
"protein_id": "ENSP00000515832.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3325,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3325,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "NM_001145357.2",
"protein_id": "NP_001138829.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3524,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "NM_001437462.1",
"protein_id": "NP_001424391.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3709,
"cdna_end": null,
"cdna_length": 6821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "NM_001437463.1",
"protein_id": "NP_001424392.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 6483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "NM_015477.3",
"protein_id": "NP_056292.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3674,
"cdna_end": null,
"cdna_length": 6786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "ENST00000564778.6",
"protein_id": "ENSP00000455204.2",
"transcript_support_level": 2,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "ENST00000565264.2",
"protein_id": "ENSP00000454296.2",
"transcript_support_level": 4,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3765,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "ENST00000704312.1",
"protein_id": "ENSP00000515834.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3660,
"cdna_end": null,
"cdna_length": 4923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "XM_047432355.1",
"protein_id": "XP_047288311.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3774,
"cdna_end": null,
"cdna_length": 6886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "XM_047432356.1",
"protein_id": "XP_047288312.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 6501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "XM_047432358.1",
"protein_id": "XP_047288314.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3461,
"cdna_end": null,
"cdna_length": 6573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "XM_047432359.1",
"protein_id": "XP_047288315.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3556,
"cdna_end": null,
"cdna_length": 6668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "XM_047432360.1",
"protein_id": "XP_047288316.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 5415,
"cdna_end": null,
"cdna_length": 8527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "XM_047432361.1",
"protein_id": "XP_047288317.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3872,
"cdna_end": null,
"cdna_length": 6984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3310C>A",
"hgvs_p": "p.Arg1104Arg",
"transcript": "XM_047432362.1",
"protein_id": "XP_047288318.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3752,
"cdna_end": null,
"cdna_length": 6864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.1459C>A",
"hgvs_p": "p.Arg487Arg",
"transcript": "XM_047432363.1",
"protein_id": "XP_047288319.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 656,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "n.387C>A",
"hgvs_p": null,
"transcript": "ENST00000570124.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "n.2632C>A",
"hgvs_p": null,
"transcript": "ENST00000704302.1",
"protein_id": "ENSP00000515826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "SIN3A",
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{
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{
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},
{
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},
{
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},
{
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}
],
"gene_symbol": "SIN3A",
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"dbsnp": "rs879255621",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.28999999165534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.804,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000394947.8",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Arg1104Arg"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}