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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: 11-126463244-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126463244&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126463244,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000525144.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "NM_032531.4",
"protein_id": "NP_115920.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 778,
"cds_start": 655,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "ENST00000525144.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "ENST00000525144.7",
"protein_id": "ENSP00000435466.2",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 778,
"cds_start": 655,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "NM_032531.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "ENST00000529097.6",
"protein_id": "ENSP00000434081.2",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 766,
"cds_start": 655,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "ENST00000525704.2",
"protein_id": "ENSP00000435094.2",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 600,
"cds_start": 655,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Val255Met",
"transcript": "NM_001441252.1",
"protein_id": "NP_001428181.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 814,
"cds_start": 763,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "NM_001441253.1",
"protein_id": "NP_001428182.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 803,
"cds_start": 655,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 3895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "NM_001441251.1",
"protein_id": "NP_001428180.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 791,
"cds_start": 655,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "NM_001441254.1",
"protein_id": "NP_001428183.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 791,
"cds_start": 694,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Val205Met",
"transcript": "NM_001441255.1",
"protein_id": "NP_001428184.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 789,
"cds_start": 613,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "NM_001441256.1",
"protein_id": "NP_001428185.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 779,
"cds_start": 694,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "NM_001441257.1",
"protein_id": "NP_001428186.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 778,
"cds_start": 655,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "NM_001441258.1",
"protein_id": "NP_001428187.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 778,
"cds_start": 655,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "NM_001301097.2",
"protein_id": "NP_001288026.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 766,
"cds_start": 655,
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"cdna_start": 916,
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"cdna_length": 3784,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Val205Met",
"transcript": "NM_001441259.1",
"protein_id": "NP_001428188.1",
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"cdna_start": 1091,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Val205Met",
"transcript": "NM_001441260.1",
"protein_id": "NP_001428189.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 752,
"cds_start": 613,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "NM_001441261.1",
"protein_id": "NP_001428190.1",
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"cds_start": 655,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "NM_001441262.1",
"protein_id": "NP_001428191.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 716,
"cds_start": 505,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "NM_001441263.1",
"protein_id": "NP_001428192.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 613,
"cds_start": 694,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 955,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "NM_001161707.2",
"protein_id": "NP_001155179.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 600,
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"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "NM_001441264.1",
"protein_id": "NP_001428193.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 588,
"cds_start": 655,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 2634,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Met",
"transcript": "XM_047427715.1",
"protein_id": "XP_047283671.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 589,
"cds_start": 88,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 4062,
"cdna_end": null,
"cdna_length": 6966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIRREL3",
"gene_hgnc_id": 23204,
"dbsnp": "rs200789628",
"frequency_reference_population": 0.00002912323,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000273666,
"gnomad_genomes_af": 0.0000459927,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1315273642539978,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0922,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.628,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000525144.7",
"gene_symbol": "KIRREL3",
"hgnc_id": 23204,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}