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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: 1-171517702-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=171517702&ref=A&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": "PRRC2C",
"hgnc_id": 24903,
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001387844.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0633,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"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": 0.023919373750686646,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10624,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8697,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001387844.1",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647382.2",
"protein_coding": true,
"protein_id": "NP_001374773.1",
"strand": true,
"transcript": "NM_001387844.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10624,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8697,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000647382.2",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387844.1",
"protein_coding": true,
"protein_id": "ENSP00000495867.2",
"strand": true,
"transcript": "ENST00000647382.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2817,
"aa_ref": "N",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10175,
"cdna_start": 689,
"cds_end": null,
"cds_length": 8454,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000426496.6",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Asn211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410219.3",
"strand": true,
"transcript": "ENST00000426496.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2819,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10366,
"cdna_start": 880,
"cds_end": null,
"cds_length": 8460,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000367742.7",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356716.3",
"strand": true,
"transcript": "ENST00000367742.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2817,
"aa_ref": "N",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10381,
"cdna_start": 895,
"cds_end": null,
"cds_length": 8454,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_015172.4",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Asn211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055987.2",
"strand": true,
"transcript": "NM_015172.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2817,
"aa_ref": "N",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10355,
"cdna_start": 869,
"cds_end": null,
"cds_length": 8454,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000338920.8",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Asn211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343629.4",
"strand": true,
"transcript": "ENST00000338920.8",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2903,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10639,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8712,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245015.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245072.1",
"strand": true,
"transcript": "XM_005245015.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2901,
"aa_ref": "N",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10633,
"cdna_start": 895,
"cds_end": null,
"cds_length": 8706,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245016.6",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Asn211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245073.1",
"strand": true,
"transcript": "XM_005245016.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2898,
"aa_ref": "N",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10624,
"cdna_start": 886,
"cds_end": null,
"cds_length": 8697,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245018.4",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Asn208Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245075.1",
"strand": true,
"transcript": "XM_005245018.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2896,
"aa_ref": "N",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10618,
"cdna_start": 895,
"cds_end": null,
"cds_length": 8691,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006711238.5",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Asn211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711301.1",
"strand": true,
"transcript": "XM_006711238.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2896,
"aa_ref": "N",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10618,
"cdna_start": 880,
"cds_end": null,
"cds_length": 8691,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017000760.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.617A>G",
"hgvs_p": "p.Asn206Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856249.1",
"strand": true,
"transcript": "XM_017000760.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2858,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10692,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8577,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245020.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245077.1",
"strand": true,
"transcript": "XM_005245020.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 2853,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10677,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8562,
"cds_start": 638,
"consequences": [
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],
"exon_count": 36,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017000761.2",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856250.1",
"strand": true,
"transcript": "XM_017000761.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2824,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10402,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8475,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245023.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245080.1",
"strand": true,
"transcript": "XM_005245023.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 2819,
"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 10387,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8460,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245024.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245081.1",
"strand": true,
"transcript": "XM_005245024.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2779,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10455,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8340,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245025.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245082.1",
"strand": true,
"transcript": "XM_005245025.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 2774,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10440,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8325,
"cds_start": 638,
"consequences": [
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],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245026.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245083.1",
"strand": true,
"transcript": "XM_005245026.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 2719,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10298,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8160,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245027.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245084.1",
"strand": true,
"transcript": "XM_005245027.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 2718,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10351,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8157,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245028.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245085.1",
"strand": true,
"transcript": "XM_005245028.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2714,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10283,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8145,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245029.3",
"gene_hgnc_id": 24903,
"gene_symbol": "PRRC2C",
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Asn213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245086.1",
"strand": true,
"transcript": "XM_005245029.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2713,
"aa_ref": "N",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10336,
"cdna_start": 901,
"cds_end": null,
"cds_length": 8142,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047415746.1",
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