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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: 3-185675330-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=185675330&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 185675330,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001291869.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "NM_006548.6",
"protein_id": "NP_006539.3",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 599,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382199.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006548.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000382199.7",
"protein_id": "ENSP00000371634.3",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 599,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006548.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382199.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000346192.7",
"protein_id": "ENSP00000320204.5",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 556,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346192.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "ENST00000421047.3",
"protein_id": "ENSP00000413787.3",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 536,
"cds_start": 848,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421047.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1226G>A",
"hgvs_p": "p.Arg409His",
"transcript": "ENST00000881591.1",
"protein_id": "ENSP00000551650.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 662,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881591.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "NM_001291869.3",
"protein_id": "NP_001278798.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 605,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291869.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "ENST00000457616.6",
"protein_id": "ENSP00000410242.2",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 605,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457616.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345His",
"transcript": "ENST00000921331.1",
"protein_id": "ENSP00000591390.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 598,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921331.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000921330.1",
"protein_id": "ENSP00000591389.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 587,
"cds_start": 1037,
"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": "ENST00000921330.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000921333.1",
"protein_id": "ENSP00000591392.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 576,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921333.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000881590.1",
"protein_id": "ENSP00000551649.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 574,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881590.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "ENST00000881588.1",
"protein_id": "ENSP00000551647.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 562,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881588.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "NM_001007225.3",
"protein_id": "NP_001007226.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 556,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007225.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345His",
"transcript": "ENST00000881589.1",
"protein_id": "ENSP00000551648.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 555,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881589.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000921325.1",
"protein_id": "ENSP00000591384.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 555,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921325.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1031G>A",
"hgvs_p": "p.Arg344His",
"transcript": "ENST00000955762.1",
"protein_id": "ENSP00000625821.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 554,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955762.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Arg291His",
"transcript": "ENST00000921327.1",
"protein_id": "ENSP00000591386.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 544,
"cds_start": 872,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921327.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000921335.1",
"protein_id": "ENSP00000591394.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 544,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921335.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001291872.3",
"protein_id": "NP_001278801.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 542,
"cds_start": 866,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291872.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "NM_001291873.3",
"protein_id": "NP_001278802.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 536,
"cds_start": 848,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291873.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000921326.1",
"protein_id": "ENSP00000591385.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 512,
"cds_start": 1037,
"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": "ENST00000921326.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP2",
"gene_hgnc_id": 28867,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000921337.1",
"protein_id": "ENSP00000591396.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 502,
"cds_start": 875,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}