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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: 12-51291956-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51291956&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51291956,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016293.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Ala384Thr",
"transcript": "NM_016293.4",
"protein_id": "NP_057377.4",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 565,
"cds_start": 1150,
"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": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Ala384Thr",
"transcript": "ENST00000615107.6",
"protein_id": "ENSP00000483983.2",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 565,
"cds_start": 1150,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "n.1772G>A",
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"transcript": "NM_001364779.1",
"protein_id": "NP_001351708.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 564,
"cds_start": 1147,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"transcript": "ENST00000871152.1",
"protein_id": "ENSP00000541211.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 564,
"cds_start": 1147,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Ala369Thr",
"transcript": "ENST00000871153.1",
"protein_id": "ENSP00000541212.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 550,
"cds_start": 1105,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Ala384Thr",
"transcript": "ENST00000871156.1",
"protein_id": "ENSP00000541215.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 541,
"cds_start": 1150,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Ala358Thr",
"transcript": "NM_001290007.2",
"protein_id": "NP_001276936.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 539,
"cds_start": 1072,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Ala358Thr",
"transcript": "ENST00000544402.5",
"protein_id": "ENSP00000445874.1",
"transcript_support_level": 2,
"aa_start": 358,
"aa_end": null,
"aa_length": 539,
"cds_start": 1072,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Ala384Thr",
"transcript": "NM_001364780.1",
"protein_id": "NP_001351709.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 538,
"cds_start": 1150,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Ala384Thr",
"transcript": "ENST00000871154.1",
"protein_id": "ENSP00000541213.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 538,
"cds_start": 1150,
"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": "A",
"aa_alt": "T",
"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.1069G>A",
"hgvs_p": "p.Ala357Thr",
"transcript": "ENST00000871158.1",
"protein_id": "ENSP00000541217.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 538,
"cds_start": 1069,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"transcript": "ENST00000871157.1",
"protein_id": "ENSP00000541216.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 537,
"cds_start": 1147,
"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": "A",
"aa_alt": "T",
"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.1054G>A",
"hgvs_p": "p.Ala352Thr",
"transcript": "NM_001290008.2",
"protein_id": "NP_001276937.2",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 533,
"cds_start": 1054,
"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": "A",
"aa_alt": "T",
"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.1054G>A",
"hgvs_p": "p.Ala352Thr",
"transcript": "ENST00000452142.7",
"protein_id": "ENSP00000410217.3",
"transcript_support_level": 2,
"aa_start": 352,
"aa_end": null,
"aa_length": 533,
"cds_start": 1054,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Ala357Thr",
"transcript": "ENST00000604560.6",
"protein_id": "ENSP00000474972.3",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 531,
"cds_start": 1069,
"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": "A",
"aa_alt": "T",
"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.991G>A",
"hgvs_p": "p.Ala331Thr",
"transcript": "ENST00000871155.1",
"protein_id": "ENSP00000541214.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 512,
"cds_start": 991,
"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": "A",
"aa_alt": "T",
"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.988G>A",
"hgvs_p": "p.Ala330Thr",
"transcript": "NM_001364781.1",
"protein_id": "NP_001351710.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 511,
"cds_start": 988,
"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": "A",
"aa_alt": "T",
"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.778G>A",
"hgvs_p": "p.Ala260Thr",
"transcript": "NM_001290009.2",
"protein_id": "NP_001276938.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 441,
"cds_start": 778,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Ala260Thr",
"transcript": "XM_047428968.1",
"protein_id": "XP_047284924.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 441,
"cds_start": 778,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "n.1222G>A",
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "n.*206G>A",
"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": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "n.*246G>A",
"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"
}
],
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"dbsnp": "rs1312405207",
"frequency_reference_population": 0.0000030977515,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205213,
"gnomad_genomes_af": 0.0000131423,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04467219114303589,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.0653,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.553,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016293.4",
"gene_symbol": "BIN2",
"hgnc_id": 1053,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Ala384Thr"
}
],
"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
}