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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: 1-25306719-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=25306719&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BS2_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RHD",
"hgnc_id": 10009,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001282871.2",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BS2_Supporting"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RSRP1",
"hgnc_id": 25234,
"hgvs_c": "c.-67+30321C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001321772.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS2_Supporting",
"acmg_score": -5,
"allele_count_reference_population": 971,
"alphamissense_prediction": null,
"alphamissense_score": 0.0897,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "1",
"clinvar_classification": "risk factor",
"clinvar_disease": "Anti-D isoimmunization affecting pregnancy,Hemolytic disease of fetus OR newborn due to RhD isoimmunization",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.011280596256256104,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 417,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_016124.6",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000328664.9",
"protein_coding": true,
"protein_id": "NP_057208.3",
"strand": true,
"transcript": "NM_016124.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 417,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000328664.9",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016124.6",
"protein_coding": true,
"protein_id": "ENSP00000331871.4",
"strand": true,
"transcript": "ENST00000328664.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 493,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000342055.9",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339577.5",
"strand": true,
"transcript": "ENST00000342055.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 463,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000568195.5",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456966.1",
"strand": true,
"transcript": "ENST00000568195.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 431,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000423810.6",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399640.2",
"strand": true,
"transcript": "ENST00000423810.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 396,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000357542.8",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350150.4",
"strand": true,
"transcript": "ENST00000357542.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1333,
"cdna_start": null,
"cds_end": null,
"cds_length": 1137,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417538.6",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.939+3260G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396420.2",
"strand": true,
"transcript": "ENST00000417538.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 321,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": null,
"cds_end": null,
"cds_length": 966,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000454452.6",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.939+3260G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413849.2",
"strand": true,
"transcript": "ENST00000454452.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000564398.5",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "n.1218G>A",
"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": "ENST00000564398.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 493,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282871.2",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269800.1",
"strand": true,
"transcript": "NM_001282871.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 463,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282870.1",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269799.1",
"strand": true,
"transcript": "NM_001282870.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 431,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282872.1",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269801.1",
"strand": true,
"transcript": "NM_001282872.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 431,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000622561.4",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478087.1",
"strand": true,
"transcript": "ENST00000622561.4",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 396,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282869.2",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269798.1",
"strand": true,
"transcript": "NM_001282869.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 251,
"aa_ref": "G",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 756,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282867.1",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Gly189Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269796.1",
"strand": true,
"transcript": "NM_001282867.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 425,
"aa_ref": "G",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017002015.2",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857504.1",
"strand": true,
"transcript": "XM_017002015.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": null,
"cds_end": null,
"cds_length": 1137,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282868.1",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.939+3260G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269797.1",
"strand": true,
"transcript": "NM_001282868.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648012.1",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.939+3260G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498055.1",
"strand": true,
"transcript": "ENST00000648012.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": null,
"cds_end": null,
"cds_length": 966,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127691.3",
"gene_hgnc_id": 10009,
"gene_symbol": "RHD",
"hgvs_c": "c.939+3260G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121163.1",
"strand": true,
"transcript": "NM_001127691.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321772.2",
"gene_hgnc_id": 25234,
"gene_symbol": "RSRP1",
"hgvs_c": "c.-67+30321C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308701.1",
"strand": false,
"transcript": "NM_001321772.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
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