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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: 8-38138822-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38138822&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38138822,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004674.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1726A>G",
"hgvs_p": "p.Ile576Val",
"transcript": "NM_004674.5",
"protein_id": "NP_004665.2",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 628,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343823.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004674.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1726A>G",
"hgvs_p": "p.Ile576Val",
"transcript": "ENST00000343823.11",
"protein_id": "ENSP00000340896.5",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 628,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004674.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343823.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Ile482Val",
"transcript": "ENST00000428278.6",
"protein_id": "ENSP00000395310.2",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 534,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428278.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "ENST00000521652.5",
"protein_id": "ENSP00000430259.1",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 501,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521652.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1753A>G",
"hgvs_p": "p.Ile585Val",
"transcript": "ENST00000899871.1",
"protein_id": "ENSP00000569930.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 637,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899871.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1747A>G",
"hgvs_p": "p.Ile583Val",
"transcript": "ENST00000971642.1",
"protein_id": "ENSP00000641701.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 635,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971642.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1744A>G",
"hgvs_p": "p.Ile582Val",
"transcript": "ENST00000899869.1",
"protein_id": "ENSP00000569928.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 634,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899869.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1744A>G",
"hgvs_p": "p.Ile582Val",
"transcript": "ENST00000971636.1",
"protein_id": "ENSP00000641695.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 634,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971636.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1732A>G",
"hgvs_p": "p.Ile578Val",
"transcript": "ENST00000971643.1",
"protein_id": "ENSP00000641702.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 630,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971643.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1726A>G",
"hgvs_p": "p.Ile576Val",
"transcript": "ENST00000899868.1",
"protein_id": "ENSP00000569927.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 628,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899868.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1726A>G",
"hgvs_p": "p.Ile576Val",
"transcript": "ENST00000971637.1",
"protein_id": "ENSP00000641696.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 628,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971637.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1654A>G",
"hgvs_p": "p.Ile552Val",
"transcript": "ENST00000971645.1",
"protein_id": "ENSP00000641704.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 604,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971645.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1645A>G",
"hgvs_p": "p.Ile549Val",
"transcript": "ENST00000971640.1",
"protein_id": "ENSP00000641699.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 601,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971640.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1633A>G",
"hgvs_p": "p.Ile545Val",
"transcript": "ENST00000899873.1",
"protein_id": "ENSP00000569932.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 597,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899873.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1630A>G",
"hgvs_p": "p.Ile544Val",
"transcript": "ENST00000971638.1",
"protein_id": "ENSP00000641697.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 596,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971638.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1561A>G",
"hgvs_p": "p.Ile521Val",
"transcript": "ENST00000899872.1",
"protein_id": "ENSP00000569931.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 573,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899872.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1552A>G",
"hgvs_p": "p.Ile518Val",
"transcript": "ENST00000899875.1",
"protein_id": "ENSP00000569934.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 570,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899875.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1552A>G",
"hgvs_p": "p.Ile518Val",
"transcript": "ENST00000971641.1",
"protein_id": "ENSP00000641700.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 570,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971641.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1534A>G",
"hgvs_p": "p.Ile512Val",
"transcript": "ENST00000899870.1",
"protein_id": "ENSP00000569929.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 564,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899870.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1534A>G",
"hgvs_p": "p.Ile512Val",
"transcript": "ENST00000899874.1",
"protein_id": "ENSP00000569933.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 564,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899874.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Ile482Val",
"transcript": "NM_001105214.2",
"protein_id": "NP_001098684.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 534,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105214.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.1435A>G",
"hgvs_p": "p.Ile479Val",
"transcript": "ENST00000937172.1",
"protein_id": "ENSP00000607231.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 531,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1596,
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