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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: 7-123624628-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=123624628&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ASB15",
"hgnc_id": 19767,
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_080928.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ASB15-AS1",
"hgnc_id": 40904,
"hgvs_c": "n.102C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000429396.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0745,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "7",
"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": 0.08560055494308472,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4605,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001290258.2",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000451215.6",
"protein_coding": true,
"protein_id": "NP_001277187.1",
"strand": true,
"transcript": "NM_001290258.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4605,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000451215.6",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001290258.2",
"protein_coding": true,
"protein_id": "ENSP00000416433.1",
"strand": true,
"transcript": "ENST00000451215.6",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 240,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 765,
"cdna_start": 553,
"cds_end": null,
"cds_length": 723,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000447789.5",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401166.1",
"strand": true,
"transcript": "ENST00000447789.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 612,
"aa_ref": "D",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1839,
"cds_start": 583,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944024.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Asp195Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614083.1",
"strand": true,
"transcript": "ENST00000944024.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_080928.4",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_563616.3",
"strand": true,
"transcript": "NM_080928.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000275699.4",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000275699.3",
"strand": true,
"transcript": "ENST00000275699.4",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000434204.5",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390963.1",
"strand": true,
"transcript": "ENST00000434204.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4788,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000451558.5",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397655.1",
"strand": true,
"transcript": "ENST00000451558.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4600,
"cdna_start": 844,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883309.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553368.1",
"strand": true,
"transcript": "ENST00000883309.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883310.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553369.1",
"strand": true,
"transcript": "ENST00000883310.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3241,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883312.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553371.1",
"strand": true,
"transcript": "ENST00000883312.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883314.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553373.1",
"strand": true,
"transcript": "ENST00000883314.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883315.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553374.1",
"strand": true,
"transcript": "ENST00000883315.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883317.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553376.1",
"strand": true,
"transcript": "ENST00000883317.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883319.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553378.1",
"strand": true,
"transcript": "ENST00000883319.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883320.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553379.1",
"strand": true,
"transcript": "ENST00000883320.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3140,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883321.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553380.1",
"strand": true,
"transcript": "ENST00000883321.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883324.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553383.1",
"strand": true,
"transcript": "ENST00000883324.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883325.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553384.1",
"strand": true,
"transcript": "ENST00000883325.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1767,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883326.1",
"gene_hgnc_id": 19767,
"gene_symbol": "ASB15",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553385.1",
"strand": true,
"transcript": "ENST00000883326.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 588,
"aa_ref": "D",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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{
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]
}