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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: 9-676981-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=676981&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KANK1",
"hgnc_id": 19309,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"inheritance_mode": "AR,Unknown,AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_015158.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KANK1-AS1",
"hgnc_id": 58139,
"hgvs_c": "n.219-2602G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000421645.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0882,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.018012315034866333,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5070,
"cdna_start": 152,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_015158.5",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382297.7",
"protein_coding": true,
"protein_id": "NP_055973.2",
"strand": true,
"transcript": "NM_015158.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5070,
"cdna_start": 152,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000382297.7",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015158.5",
"protein_coding": true,
"protein_id": "ENSP00000371734.2",
"strand": true,
"transcript": "ENST00000382297.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5581,
"cdna_start": 661,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000382303.5",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371740.1",
"strand": true,
"transcript": "ENST00000382303.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 465,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 64,
"cds_end": null,
"cds_length": 1398,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000382289.7",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371726.3",
"strand": true,
"transcript": "ENST00000382289.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1375,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 145,
"cds_end": null,
"cds_length": 4128,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000619269.5",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477725.2",
"strand": true,
"transcript": "ENST00000619269.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1375,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5118,
"cdna_start": 132,
"cds_end": null,
"cds_length": 4128,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903907.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573966.1",
"strand": true,
"transcript": "ENST00000903907.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1367,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5394,
"cdna_start": 434,
"cds_end": null,
"cds_length": 4104,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949415.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619474.1",
"strand": true,
"transcript": "ENST00000949415.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5575,
"cdna_start": 657,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001256876.3",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243805.1",
"strand": true,
"transcript": "NM_001256876.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5685,
"cdna_start": 767,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001256877.3",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243806.1",
"strand": true,
"transcript": "NM_001256877.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5230,
"cdna_start": 312,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354334.2",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341263.1",
"strand": true,
"transcript": "NM_001354334.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 266,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438412.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425341.1",
"strand": true,
"transcript": "NM_001438412.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5348,
"cdna_start": 430,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000674102.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501167.1",
"strand": true,
"transcript": "ENST00000674102.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1352,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5276,
"cdna_start": 362,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000685947.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508833.1",
"strand": true,
"transcript": "ENST00000685947.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5219,
"cdna_start": 305,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000689779.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508451.1",
"strand": true,
"transcript": "ENST00000689779.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5213,
"cdna_start": 293,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903884.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573943.1",
"strand": true,
"transcript": "ENST00000903884.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5078,
"cdna_start": 160,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903885.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573944.1",
"strand": true,
"transcript": "ENST00000903885.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 850,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903887.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573946.1",
"strand": true,
"transcript": "ENST00000903887.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5164,
"cdna_start": 246,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903889.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573948.1",
"strand": true,
"transcript": "ENST00000903889.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": 259,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903891.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573950.1",
"strand": true,
"transcript": "ENST00000903891.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5401,
"cdna_start": 482,
"cds_end": null,
"cds_length": 4059,
"cds_start": 9,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903893.1",
"gene_hgnc_id": 19309,
"gene_symbol": "KANK1",
"hgvs_c": "c.9C>G",
"hgvs_p": "p.His3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573952.1",
"strand": true,
"transcript": "ENST00000903893.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "H",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5622,
"cdna_start": 703,
"cds_end": null,
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