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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: 20-36770917-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36770917&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36770917,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024918.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "NM_001145315.2",
"protein_id": "NP_001138787.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": "ENST00000373750.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145315.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000373750.9",
"protein_id": "ENSP00000362855.4",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": "NM_001145315.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373750.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "n.694C>T",
"hgvs_p": null,
"transcript": "ENST00000480153.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480153.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "NM_001145316.2",
"protein_id": "NP_001138788.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145316.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "NM_024918.4",
"protein_id": "NP_079194.3",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024918.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000426836.5",
"protein_id": "ENSP00000389810.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426836.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000863304.1",
"protein_id": "ENSP00000533363.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863304.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000863306.1",
"protein_id": "ENSP00000533365.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863306.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000925982.1",
"protein_id": "ENSP00000596041.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925982.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000925993.1",
"protein_id": "ENSP00000596052.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925993.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000963379.1",
"protein_id": "ENSP00000633438.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963379.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000925983.1",
"protein_id": "ENSP00000596042.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 355,
"cds_start": 311,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925983.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000863309.1",
"protein_id": "ENSP00000533368.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 350,
"cds_start": 311,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863309.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000863305.1",
"protein_id": "ENSP00000533364.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 344,
"cds_start": 311,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863305.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000863308.1",
"protein_id": "ENSP00000533367.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 344,
"cds_start": 311,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863308.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000925991.1",
"protein_id": "ENSP00000596050.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 344,
"cds_start": 311,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 4298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925991.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "NM_001145318.2",
"protein_id": "NP_001138790.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 340,
"cds_start": 263,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145318.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000448110.6",
"protein_id": "ENSP00000404463.1",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 340,
"cds_start": 263,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448110.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000925990.1",
"protein_id": "ENSP00000596049.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 311,
"cds_start": 311,
"cds_end": null,
"cds_length": 936,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925990.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000925988.1",
"protein_id": "ENSP00000596047.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 307,
"cds_start": 311,
"cds_end": null,
"cds_length": 924,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925988.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000925985.1",
"protein_id": "ENSP00000596044.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 295,
"cds_start": 311,
"cds_end": null,
"cds_length": 888,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925985.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSN1",
"gene_hgnc_id": 16165,
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Thr32Met",
"transcript": "ENST00000373740.7",
"protein_id": "ENSP00000362845.3",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 284,
"cds_start": 95,
"cds_end": null,
"cds_length": 855,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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}