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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: 12-51295817-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51295817&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51295817,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016293.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "NM_016293.4",
"protein_id": "NP_057377.4",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 565,
"cds_start": 740,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000615107.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016293.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "ENST00000615107.6",
"protein_id": "ENSP00000483983.2",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 565,
"cds_start": 740,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016293.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615107.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "n.1362T>C",
"hgvs_p": null,
"transcript": "ENST00000605039.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000605039.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "NM_001364779.1",
"protein_id": "NP_001351708.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 564,
"cds_start": 740,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364779.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "ENST00000871152.1",
"protein_id": "ENSP00000541211.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 564,
"cds_start": 740,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871152.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Phe232Ser",
"transcript": "ENST00000871153.1",
"protein_id": "ENSP00000541212.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 550,
"cds_start": 695,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871153.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "ENST00000871156.1",
"protein_id": "ENSP00000541215.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 541,
"cds_start": 740,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871156.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Phe221Ser",
"transcript": "NM_001290007.2",
"protein_id": "NP_001276936.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 539,
"cds_start": 662,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290007.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Phe221Ser",
"transcript": "ENST00000544402.5",
"protein_id": "ENSP00000445874.1",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 539,
"cds_start": 662,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544402.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "NM_001364780.1",
"protein_id": "NP_001351709.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 538,
"cds_start": 740,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364780.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "ENST00000871154.1",
"protein_id": "ENSP00000541213.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 538,
"cds_start": 740,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871154.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Phe220Ser",
"transcript": "ENST00000871158.1",
"protein_id": "ENSP00000541217.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 538,
"cds_start": 659,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871158.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "ENST00000871157.1",
"protein_id": "ENSP00000541216.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 537,
"cds_start": 740,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871157.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Phe215Ser",
"transcript": "NM_001290008.2",
"protein_id": "NP_001276937.2",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 533,
"cds_start": 644,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290008.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Phe215Ser",
"transcript": "ENST00000452142.7",
"protein_id": "ENSP00000410217.3",
"transcript_support_level": 2,
"aa_start": 215,
"aa_end": null,
"aa_length": 533,
"cds_start": 644,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452142.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Phe220Ser",
"transcript": "ENST00000604560.6",
"protein_id": "ENSP00000474972.3",
"transcript_support_level": 5,
"aa_start": 220,
"aa_end": null,
"aa_length": 531,
"cds_start": 659,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604560.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Phe123Ser",
"transcript": "NM_001290009.2",
"protein_id": "NP_001276938.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 441,
"cds_start": 368,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290009.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Phe123Ser",
"transcript": "XM_047428968.1",
"protein_id": "XP_047284924.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 441,
"cds_start": 368,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428968.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.602+3386T>C",
"hgvs_p": null,
"transcript": "ENST00000871155.1",
"protein_id": "ENSP00000541214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871155.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.602+3386T>C",
"hgvs_p": null,
"transcript": "NM_001364781.1",
"protein_id": "NP_001351710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "n.342T>C",
"hgvs_p": null,
"transcript": "ENST00000603177.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000603177.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "n.347T>C",
"hgvs_p": null,
"transcript": "ENST00000605819.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000605819.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "n.812T>C",
"hgvs_p": null,
"transcript": "XR_001748746.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001748746.2"
}
],
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"dbsnp": "rs780678634",
"frequency_reference_population": 0.000013019413,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000130017,
"gnomad_genomes_af": 0.0000131898,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9050737619400024,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.77,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.049,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016293.4",
"gene_symbol": "BIN2",
"hgnc_id": 1053,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}