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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: 12-51291895-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51291895&ref=C&alt=T&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": "BIN2",
"hgnc_id": 1053,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_016293.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0637,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.035524338483810425,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_016293.4",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000615107.6",
"protein_coding": true,
"protein_id": "NP_057377.4",
"strand": false,
"transcript": "NM_016293.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000615107.6",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016293.4",
"protein_coding": true,
"protein_id": "ENSP00000483983.2",
"strand": false,
"transcript": "ENST00000615107.6",
"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": 2781,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000605039.5",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "n.1833G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000605039.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 564,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001364779.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351708.1",
"strand": false,
"transcript": "NM_001364779.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 564,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871152.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541211.1",
"strand": false,
"transcript": "ENST00000871152.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 550,
"aa_ref": "R",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871153.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Arg389Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541212.1",
"strand": false,
"transcript": "ENST00000871153.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871156.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541215.1",
"strand": false,
"transcript": "ENST00000871156.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 539,
"aa_ref": "R",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001290007.2",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Arg378Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276936.1",
"strand": false,
"transcript": "NM_001290007.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 539,
"aa_ref": "R",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000544402.5",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Arg378Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445874.1",
"strand": false,
"transcript": "ENST00000544402.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001364780.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351709.1",
"strand": false,
"transcript": "NM_001364780.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871154.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541213.1",
"strand": false,
"transcript": "ENST00000871154.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000871158.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541217.1",
"strand": false,
"transcript": "ENST00000871158.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871157.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541216.1",
"strand": false,
"transcript": "ENST00000871157.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2135,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001290008.2",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276937.2",
"strand": false,
"transcript": "NM_001290008.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2115,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000452142.7",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410217.3",
"strand": false,
"transcript": "ENST00000452142.7",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000604560.6",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474972.3",
"strand": false,
"transcript": "ENST00000604560.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 512,
"aa_ref": "R",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1052,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000871155.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1052G>A",
"hgvs_p": "p.Arg351Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541214.1",
"strand": false,
"transcript": "ENST00000871155.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "R",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2069,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1049,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001364781.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351710.1",
"strand": false,
"transcript": "NM_001364781.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 441,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 1326,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001290009.2",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276938.1",
"strand": false,
"transcript": "NM_001290009.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 441,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 1326,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047428968.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284924.1",
"strand": false,
"transcript": "XM_047428968.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2380,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XR_001748746.2",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "n.1283G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
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