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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: 2-127048557-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127048557&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127048557,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_139343.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1751T>C",
"hgvs_p": "p.Phe584Ser",
"transcript": "NM_139343.3",
"protein_id": "NP_647593.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 593,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316724.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139343.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1751T>C",
"hgvs_p": "p.Phe584Ser",
"transcript": "ENST00000316724.10",
"protein_id": "ENSP00000316779.5",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 593,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139343.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316724.10"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1622T>C",
"hgvs_p": "p.Phe541Ser",
"transcript": "ENST00000357970.7",
"protein_id": "ENSP00000350654.3",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 550,
"cds_start": 1622,
"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": "ENST00000357970.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1526T>C",
"hgvs_p": "p.Phe509Ser",
"transcript": "ENST00000346226.7",
"protein_id": "ENSP00000315411.3",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 518,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346226.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1490T>C",
"hgvs_p": "p.Phe497Ser",
"transcript": "ENST00000351659.7",
"protein_id": "ENSP00000315388.3",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 506,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351659.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1463T>C",
"hgvs_p": "p.Phe488Ser",
"transcript": "ENST00000259238.8",
"protein_id": "ENSP00000259238.4",
"transcript_support_level": 1,
"aa_start": 488,
"aa_end": null,
"aa_length": 497,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259238.8"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Phe473Ser",
"transcript": "ENST00000393040.7",
"protein_id": "ENSP00000376760.3",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 482,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393040.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1397T>C",
"hgvs_p": "p.Phe466Ser",
"transcript": "ENST00000393041.7",
"protein_id": "ENSP00000376761.3",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 475,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393041.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1334T>C",
"hgvs_p": "p.Phe445Ser",
"transcript": "ENST00000352848.8",
"protein_id": "ENSP00000315284.4",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 454,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352848.8"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1289T>C",
"hgvs_p": "p.Phe430Ser",
"transcript": "ENST00000409400.1",
"protein_id": "ENSP00000386797.1",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 439,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409400.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1244T>C",
"hgvs_p": "p.Phe415Ser",
"transcript": "ENST00000376113.6",
"protein_id": "ENSP00000365281.2",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 424,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376113.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1199T>C",
"hgvs_p": "p.Phe400Ser",
"transcript": "ENST00000348750.8",
"protein_id": "ENSP00000259237.5",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 409,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348750.8"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1865T>C",
"hgvs_p": "p.Phe622Ser",
"transcript": "ENST00000947993.1",
"protein_id": "ENSP00000618052.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 631,
"cds_start": 1865,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947993.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Phe609Ser",
"transcript": "ENST00000948029.1",
"protein_id": "ENSP00000618088.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 618,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948029.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1796T>C",
"hgvs_p": "p.Phe599Ser",
"transcript": "ENST00000947986.1",
"protein_id": "ENSP00000618045.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 608,
"cds_start": 1796,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947986.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1778T>C",
"hgvs_p": "p.Phe593Ser",
"transcript": "ENST00000948010.1",
"protein_id": "ENSP00000618069.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 602,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948010.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1745T>C",
"hgvs_p": "p.Phe582Ser",
"transcript": "ENST00000947995.1",
"protein_id": "ENSP00000618054.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 591,
"cds_start": 1745,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947995.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1733T>C",
"hgvs_p": "p.Phe578Ser",
"transcript": "ENST00000948015.1",
"protein_id": "ENSP00000618074.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 587,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948015.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1727T>C",
"hgvs_p": "p.Phe576Ser",
"transcript": "ENST00000914478.1",
"protein_id": "ENSP00000584537.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 585,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914478.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1721T>C",
"hgvs_p": "p.Phe574Ser",
"transcript": "ENST00000947989.1",
"protein_id": "ENSP00000618048.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 583,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947989.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1718T>C",
"hgvs_p": "p.Phe573Ser",
"transcript": "ENST00000914488.1",
"protein_id": "ENSP00000584547.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 582,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914488.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1685T>C",
"hgvs_p": "p.Phe562Ser",
"transcript": "ENST00000948008.1",
"protein_id": "ENSP00000618067.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 571,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Myopathy, centronuclear, 2",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}