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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: 19-51417235-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51417235&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SIGLEC10",
"hgnc_id": 15620,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_033130.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SIGLEC10-AS1",
"hgnc_id": 40719,
"hgvs_c": "n.539A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000532688.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.992,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9620339870452881,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 697,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2094,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_033130.5",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000339313.10",
"protein_coding": true,
"protein_id": "NP_149121.2",
"strand": false,
"transcript": "NM_033130.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 697,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2094,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000339313.10",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033130.5",
"protein_coding": true,
"protein_id": "ENSP00000345243.4",
"strand": false,
"transcript": "ENST00000339313.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 639,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 424,
"cds_end": null,
"cds_length": 1920,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000439889.6",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389132.2",
"strand": false,
"transcript": "ENST00000439889.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 602,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1809,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000353836.9",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342389.5",
"strand": false,
"transcript": "ENST00000353836.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 544,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 323,
"cds_end": null,
"cds_length": 1635,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000441969.7",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408387.2",
"strand": false,
"transcript": "ENST00000441969.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 649,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 353,
"cds_end": null,
"cds_length": 1950,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000961808.1",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631867.1",
"strand": false,
"transcript": "ENST00000961808.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 639,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 329,
"cds_end": null,
"cds_length": 1920,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171156.2",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164627.1",
"strand": false,
"transcript": "NM_001171156.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 607,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 399,
"cds_end": null,
"cds_length": 1824,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000961807.1",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631866.1",
"strand": false,
"transcript": "ENST00000961807.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 602,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2949,
"cdna_start": 329,
"cds_end": null,
"cds_length": 1809,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171157.2",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164628.1",
"strand": false,
"transcript": "NM_001171157.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 554,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 329,
"cds_end": null,
"cds_length": 1665,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171158.2",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164629.1",
"strand": false,
"transcript": "NM_001171158.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 554,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 329,
"cds_end": null,
"cds_length": 1665,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000436984.6",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414324.2",
"strand": false,
"transcript": "ENST00000436984.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 544,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 329,
"cds_end": null,
"cds_length": 1635,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171159.2",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164630.1",
"strand": false,
"transcript": "NM_001171159.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 512,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 329,
"cds_end": null,
"cds_length": 1539,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001322105.2",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309034.1",
"strand": false,
"transcript": "NM_001322105.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 512,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 329,
"cds_end": null,
"cds_length": 1539,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000525998.5",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431444.1",
"strand": false,
"transcript": "ENST00000525998.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 464,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 328,
"cds_end": null,
"cds_length": 1395,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000961809.1",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631868.1",
"strand": false,
"transcript": "ENST00000961809.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 329,
"cds_end": null,
"cds_length": 1365,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171161.2",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164632.1",
"strand": false,
"transcript": "NM_001171161.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 454,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2442,
"cdna_start": 268,
"cds_end": null,
"cds_length": 1365,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000442846.7",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395475.2",
"strand": false,
"transcript": "ENST00000442846.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 185,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 561,
"cdna_start": 171,
"cds_end": null,
"cds_length": 559,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000530476.1",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Phe57Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433838.1",
"strand": false,
"transcript": "ENST00000530476.1",
"transcript_support_level": 3
},
{
"aa_alt": "L",
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"aa_length": 664,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": 222,
"cds_end": null,
"cds_length": 1995,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047439600.1",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Phe57Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295556.1",
"strand": false,
"transcript": "XM_047439600.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 649,
"aa_ref": "F",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 329,
"cds_end": null,
"cds_length": 1950,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047439604.1",
"gene_hgnc_id": 15620,
"gene_symbol": "SIGLEC10",
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Phe90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295560.1",
"strand": false,
"transcript": "XM_047439604.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 616,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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