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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: 1-156743659-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156743659&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HDGF",
"hgnc_id": 4856,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.His260Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001319186.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 511,
"alphamissense_prediction": null,
"alphamissense_score": 0.1192,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17158010601997375,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 240,
"aa_ref": "H",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 955,
"cds_end": null,
"cds_length": 723,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004494.3",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.709C>T",
"hgvs_p": "p.His237Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357325.10",
"protein_coding": true,
"protein_id": "NP_004485.1",
"strand": false,
"transcript": "NM_004494.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 240,
"aa_ref": "H",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 955,
"cds_end": null,
"cds_length": 723,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000357325.10",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.709C>T",
"hgvs_p": "p.His237Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004494.3",
"protein_coding": true,
"protein_id": "ENSP00000349878.5",
"strand": false,
"transcript": "ENST00000357325.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000465180.5",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "n.1123C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000465180.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 325,
"aa_ref": "H",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 978,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000710272.1",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.964C>T",
"hgvs_p": "p.His322Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518165.1",
"strand": false,
"transcript": "ENST00000710272.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 263,
"aa_ref": "H",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2217,
"cdna_start": 863,
"cds_end": null,
"cds_length": 792,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001319186.2",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.His260Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306115.1",
"strand": false,
"transcript": "NM_001319186.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 256,
"aa_ref": "H",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 842,
"cds_end": null,
"cds_length": 771,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001126050.2",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.His253Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119522.1",
"strand": false,
"transcript": "NM_001126050.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 256,
"aa_ref": "H",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 960,
"cdna_start": 842,
"cds_end": null,
"cds_length": 771,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000368206.5",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.His253Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357189.5",
"strand": false,
"transcript": "ENST00000368206.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 233,
"aa_ref": "H",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 817,
"cds_end": null,
"cds_length": 702,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001126051.1",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.His230Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119523.1",
"strand": false,
"transcript": "NM_001126051.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 233,
"aa_ref": "H",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 818,
"cds_end": null,
"cds_length": 702,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000368209.9",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.His230Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357192.5",
"strand": false,
"transcript": "ENST00000368209.9",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 208,
"aa_ref": "H",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 667,
"cds_end": null,
"cds_length": 627,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001319187.2",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.His205Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306116.1",
"strand": false,
"transcript": "NM_001319187.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 208,
"aa_ref": "H",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 832,
"cds_end": null,
"cds_length": 627,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001319188.2",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.His205Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306117.1",
"strand": false,
"transcript": "NM_001319188.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 208,
"aa_ref": "H",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 807,
"cds_end": null,
"cds_length": 627,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011509453.3",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.His205Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507755.2",
"strand": false,
"transcript": "XM_011509453.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 208,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 627,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011509454.3",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.His205Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507756.1",
"strand": false,
"transcript": "XM_011509454.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 208,
"aa_ref": "H",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 695,
"cds_end": null,
"cds_length": 627,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011509455.3",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.His205Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507757.1",
"strand": false,
"transcript": "XM_011509455.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 208,
"aa_ref": "H",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 627,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047418831.1",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.His205Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274787.1",
"strand": false,
"transcript": "XM_047418831.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 208,
"aa_ref": "H",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 627,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047418832.1",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.His205Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274788.1",
"strand": false,
"transcript": "XM_047418832.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 208,
"aa_ref": "H",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 643,
"cds_end": null,
"cds_length": 627,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418833.1",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.His205Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274789.1",
"strand": false,
"transcript": "XM_047418833.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 686,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000477306.1",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "n.334C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000477306.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000482651.5",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "n.659C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000482651.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_135008.2",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "n.912C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135008.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469145.5",
"gene_hgnc_id": 4856,
"gene_symbol": "HDGF",
"hgvs_c": "n.*50C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000469145.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
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]
}