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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: 12-51292271-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51292271&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51292271,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016293.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"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.835A>G",
"hgvs_p": "p.Thr279Ala",
"transcript": "NM_016293.4",
"protein_id": "NP_057377.4",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 565,
"cds_start": 835,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": "ENST00000615107.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016293.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.835A>G",
"hgvs_p": "p.Thr279Ala",
"transcript": "ENST00000615107.6",
"protein_id": "ENSP00000483983.2",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 565,
"cds_start": 835,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2231,
"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.1457A>G",
"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": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000605039.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.832A>G",
"hgvs_p": "p.Thr278Ala",
"transcript": "NM_001364779.1",
"protein_id": "NP_001351708.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 564,
"cds_start": 832,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364779.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.832A>G",
"hgvs_p": "p.Thr278Ala",
"transcript": "ENST00000871152.1",
"protein_id": "ENSP00000541211.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 564,
"cds_start": 832,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871152.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.790A>G",
"hgvs_p": "p.Thr264Ala",
"transcript": "ENST00000871153.1",
"protein_id": "ENSP00000541212.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 550,
"cds_start": 790,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871153.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.835A>G",
"hgvs_p": "p.Thr279Ala",
"transcript": "ENST00000871156.1",
"protein_id": "ENSP00000541215.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 541,
"cds_start": 835,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871156.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.757A>G",
"hgvs_p": "p.Thr253Ala",
"transcript": "NM_001290007.2",
"protein_id": "NP_001276936.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 539,
"cds_start": 757,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290007.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.757A>G",
"hgvs_p": "p.Thr253Ala",
"transcript": "ENST00000544402.5",
"protein_id": "ENSP00000445874.1",
"transcript_support_level": 2,
"aa_start": 253,
"aa_end": null,
"aa_length": 539,
"cds_start": 757,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544402.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.835A>G",
"hgvs_p": "p.Thr279Ala",
"transcript": "NM_001364780.1",
"protein_id": "NP_001351709.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 538,
"cds_start": 835,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364780.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.835A>G",
"hgvs_p": "p.Thr279Ala",
"transcript": "ENST00000871154.1",
"protein_id": "ENSP00000541213.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 538,
"cds_start": 835,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871154.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.754A>G",
"hgvs_p": "p.Thr252Ala",
"transcript": "ENST00000871158.1",
"protein_id": "ENSP00000541217.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 538,
"cds_start": 754,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871158.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.832A>G",
"hgvs_p": "p.Thr278Ala",
"transcript": "ENST00000871157.1",
"protein_id": "ENSP00000541216.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 537,
"cds_start": 832,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871157.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.739A>G",
"hgvs_p": "p.Thr247Ala",
"transcript": "NM_001290008.2",
"protein_id": "NP_001276937.2",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 533,
"cds_start": 739,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290008.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.739A>G",
"hgvs_p": "p.Thr247Ala",
"transcript": "ENST00000452142.7",
"protein_id": "ENSP00000410217.3",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 533,
"cds_start": 739,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452142.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.754A>G",
"hgvs_p": "p.Thr252Ala",
"transcript": "ENST00000604560.6",
"protein_id": "ENSP00000474972.3",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 531,
"cds_start": 754,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604560.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.676A>G",
"hgvs_p": "p.Thr226Ala",
"transcript": "ENST00000871155.1",
"protein_id": "ENSP00000541214.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 512,
"cds_start": 676,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871155.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.673A>G",
"hgvs_p": "p.Thr225Ala",
"transcript": "NM_001364781.1",
"protein_id": "NP_001351710.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 511,
"cds_start": 673,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364781.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.463A>G",
"hgvs_p": "p.Thr155Ala",
"transcript": "NM_001290009.2",
"protein_id": "NP_001276938.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 441,
"cds_start": 463,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290009.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.463A>G",
"hgvs_p": "p.Thr155Ala",
"transcript": "XM_047428968.1",
"protein_id": "XP_047284924.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 441,
"cds_start": 463,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1948,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "n.402A>G",
"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": 511,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN2",
"gene_hgnc_id": 1053,
"hgvs_c": "n.442A>G",
"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": 511,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000605819.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 14,
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"biotype": "pseudogene",
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],
"gene_symbol": "BIN2",
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"dbsnp": "rs1436442266",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658207,
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"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18972402811050415,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.0649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.53,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016293.4",
"gene_symbol": "BIN2",
"hgnc_id": 1053,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.835A>G",
"hgvs_p": "p.Thr279Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}