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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: 2-100977737-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=100977737&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 100977737,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002518.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "NM_002518.4",
"protein_id": "NP_002509.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 824,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335681.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002518.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "ENST00000335681.10",
"protein_id": "ENSP00000338283.5",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 824,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002518.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335681.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "n.754G>T",
"hgvs_p": null,
"transcript": "ENST00000474550.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474550.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "ENST00000906777.1",
"protein_id": "ENSP00000576836.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 824,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906777.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "ENST00000906778.1",
"protein_id": "ENSP00000576837.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 824,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906778.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "ENST00000960863.1",
"protein_id": "ENSP00000630922.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 824,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960863.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Asp444Tyr",
"transcript": "ENST00000960864.1",
"protein_id": "ENSP00000630923.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 794,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960864.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1306G>T",
"hgvs_p": "p.Asp436Tyr",
"transcript": "ENST00000933582.1",
"protein_id": "ENSP00000603641.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 786,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933582.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "ENST00000960862.1",
"protein_id": "ENSP00000630921.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 778,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960862.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.217G>T",
"hgvs_p": "p.Asp73Tyr",
"transcript": "ENST00000450763.1",
"protein_id": "ENSP00000392125.1",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 201,
"cds_start": 217,
"cds_end": null,
"cds_length": 607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450763.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1510G>T",
"hgvs_p": "p.Asp504Tyr",
"transcript": "XM_047444503.1",
"protein_id": "XP_047300459.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 854,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444503.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1462G>T",
"hgvs_p": "p.Asp488Tyr",
"transcript": "XM_047444504.1",
"protein_id": "XP_047300460.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 838,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444504.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "XM_005263953.3",
"protein_id": "XP_005264010.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 824,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263953.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "XM_047444505.1",
"protein_id": "XP_047300461.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 824,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444505.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "XM_047444506.1",
"protein_id": "XP_047300462.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 824,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444506.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Asp444Tyr",
"transcript": "XM_011511242.3",
"protein_id": "XP_011509544.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 794,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511242.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Asp444Tyr",
"transcript": "XM_047444502.1",
"protein_id": "XP_047300458.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 794,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444502.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "XM_017004214.2",
"protein_id": "XP_016859703.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 778,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004214.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "XM_005263959.3",
"protein_id": "XP_005264016.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 770,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263959.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "XM_047444510.1",
"protein_id": "XP_047300466.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 770,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444510.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Asp444Tyr",
"transcript": "XM_047444511.1",
"protein_id": "XP_047300467.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 740,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444511.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS2",
"gene_hgnc_id": 7895,
"hgvs_c": "c.1420G>T",
"hgvs_p": "p.Asp474Tyr",
"transcript": "XM_017004216.2",
"protein_id": "XP_016859705.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 724,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
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"cdna_length": null,
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}