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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: 8-38105657-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38105657&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38105657,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004674.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "NM_004674.5",
"protein_id": "NP_004665.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 628,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000343823.11",
"protein_id": "ENSP00000340896.5",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 628,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000899871.1",
"protein_id": "ENSP00000569930.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 637,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000971642.1",
"protein_id": "ENSP00000641701.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 635,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000899869.1",
"protein_id": "ENSP00000569928.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 634,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000971636.1",
"protein_id": "ENSP00000641695.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 634,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000971643.1",
"protein_id": "ENSP00000641702.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 630,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000899868.1",
"protein_id": "ENSP00000569927.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 628,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000971637.1",
"protein_id": "ENSP00000641696.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 628,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000971645.1",
"protein_id": "ENSP00000641704.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 604,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000971640.1",
"protein_id": "ENSP00000641699.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 601,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000899873.1",
"protein_id": "ENSP00000569932.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 597,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000971638.1",
"protein_id": "ENSP00000641697.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 596,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000899872.1",
"protein_id": "ENSP00000569931.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 573,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000899875.1",
"protein_id": "ENSP00000569934.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 570,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000971641.1",
"protein_id": "ENSP00000641700.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 570,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000899870.1",
"protein_id": "ENSP00000569929.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 564,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000899874.1",
"protein_id": "ENSP00000569933.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 564,
"cds_start": 107,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000937172.1",
"protein_id": "ENSP00000607231.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 531,
"cds_start": 107,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937172.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000899877.1",
"protein_id": "ENSP00000569936.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 500,
"cds_start": 107,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899877.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000971639.1",
"protein_id": "ENSP00000641698.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 500,
"cds_start": 107,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971639.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH2L",
"gene_hgnc_id": 744,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000971644.1",
"protein_id": "ENSP00000641703.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 446,
"cds_start": 107,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971644.1"
},
{
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],
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"hom_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": -2,
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{
"score": -2,
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"pathogenic_score": 2,
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"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}