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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: 3-52204815-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52204815&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52204815,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001304444.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "NM_000688.6",
"protein_id": "NP_000679.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000484952.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000688.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000484952.6",
"protein_id": "ENSP00000418779.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000688.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484952.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000310271.6",
"protein_id": "ENSP00000309259.2",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310271.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000469224.5",
"protein_id": "ENSP00000417719.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469224.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.751G>T",
"hgvs_p": "p.Asp251Tyr",
"transcript": "NM_001304444.1",
"protein_id": "NP_001291373.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 657,
"cds_start": 751,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304444.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000864930.1",
"protein_id": "ENSP00000534989.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 646,
"cds_start": 700,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864930.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000930956.1",
"protein_id": "ENSP00000601015.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 646,
"cds_start": 700,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930956.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "NM_001304443.1",
"protein_id": "NP_001291372.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304443.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "NM_199166.2",
"protein_id": "NP_954635.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199166.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000394965.6",
"protein_id": "ENSP00000378416.2",
"transcript_support_level": 2,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394965.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000864926.1",
"protein_id": "ENSP00000534985.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864926.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000864931.1",
"protein_id": "ENSP00000534990.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864931.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000864932.1",
"protein_id": "ENSP00000534991.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864932.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000864933.1",
"protein_id": "ENSP00000534992.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864933.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000864934.1",
"protein_id": "ENSP00000534993.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864934.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000864939.1",
"protein_id": "ENSP00000534998.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864939.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000864944.1",
"protein_id": "ENSP00000535003.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864944.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000942096.1",
"protein_id": "ENSP00000612155.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942096.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000942097.1",
"protein_id": "ENSP00000612156.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942097.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000942099.1",
"protein_id": "ENSP00000612158.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942099.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Asp234Tyr",
"transcript": "ENST00000942101.1",
"protein_id": "ENSP00000612160.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 640,
"cds_start": 700,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942101.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAS1",
"gene_hgnc_id": 396,
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Asp233Tyr",
"transcript": "ENST00000864927.1",
"protein_id": "ENSP00000534986.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 639,
"cds_start": 697,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864927.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
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