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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: 1-46189488-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46189488&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "POMGNT1",
"hgnc_id": 19139,
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"inheritance_mode": "AR,AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001243766.2",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TSPAN1",
"hgnc_id": 20657,
"hgvs_c": "c.678+4182delG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "XM_011540460.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Muscle eye brain disease",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2719,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_017739.4",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371984.8",
"protein_coding": true,
"protein_id": "NP_060209.4",
"strand": false,
"transcript": "NM_017739.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2719,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000371984.8",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017739.4",
"protein_coding": true,
"protein_id": "ENSP00000361052.3",
"strand": false,
"transcript": "ENST00000371984.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 748,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 2515,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001243766.2",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230695.2",
"strand": false,
"transcript": "NM_001243766.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 748,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 2515,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000371992.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361060.1",
"strand": false,
"transcript": "ENST00000371992.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001410783.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397712.1",
"strand": false,
"transcript": "NM_001410783.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001438686.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425615.1",
"strand": false,
"transcript": "NM_001438686.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001438688.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425617.1",
"strand": false,
"transcript": "NM_001438688.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000692369.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508453.1",
"strand": false,
"transcript": "ENST00000692369.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 690,
"aa_ref": "L",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 2118,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1954,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000908470.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1954delC",
"hgvs_p": "p.Leu652fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578529.1",
"strand": false,
"transcript": "ENST00000908470.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 673,
"aa_ref": "L",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1903,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000687149.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1903delC",
"hgvs_p": "p.Leu635fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509745.1",
"strand": false,
"transcript": "ENST00000687149.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 670,
"aa_ref": "L",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 2058,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1894,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000948737.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1894delC",
"hgvs_p": "p.Leu632fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618796.1",
"strand": false,
"transcript": "ENST00000948737.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 666,
"aa_ref": "L",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1882,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000908473.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1882delC",
"hgvs_p": "p.Leu628fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578532.1",
"strand": false,
"transcript": "ENST00000908473.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1882,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000908481.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1882delC",
"hgvs_p": "p.Leu628fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578540.1",
"strand": false,
"transcript": "ENST00000908481.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 665,
"aa_ref": "L",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1879,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000908472.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1879delC",
"hgvs_p": "p.Leu627fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578531.1",
"strand": false,
"transcript": "ENST00000908472.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001437653.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424582.1",
"strand": false,
"transcript": "NM_001437653.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001438689.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425618.1",
"strand": false,
"transcript": "NM_001438689.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000396420.8",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379698.4",
"strand": false,
"transcript": "ENST00000396420.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000686737.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508736.1",
"strand": false,
"transcript": "ENST00000686737.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000687683.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508522.1",
"strand": false,
"transcript": "ENST00000687683.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 1979,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1864,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000908469.1",
"gene_hgnc_id": 19139,
"gene_symbol": "POMGNT1",
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Leu622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578528.1",
"strand": false,
"transcript": "ENST00000908469.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": "L",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 2482,
"cds_end": null,
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{
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]
}