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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: 7-50616226-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=50616226&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 50616226,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001371009.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.968C>G",
"hgvs_p": "p.Thr323Ser",
"transcript": "NM_001350814.2",
"protein_id": "NP_001337743.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 594,
"cds_start": 968,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401949.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350814.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.968C>G",
"hgvs_p": "p.Thr323Ser",
"transcript": "ENST00000401949.6",
"protein_id": "ENSP00000385770.1",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 594,
"cds_start": 968,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001350814.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401949.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.968C>G",
"hgvs_p": "p.Thr323Ser",
"transcript": "ENST00000398812.6",
"protein_id": "ENSP00000381793.2",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 594,
"cds_start": 968,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398812.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "ENST00000335866.7",
"protein_id": "ENSP00000338543.3",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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": "ENST00000335866.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "ENST00000398810.6",
"protein_id": "ENSP00000381790.2",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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": "ENST00000398810.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "ENST00000402578.5",
"protein_id": "ENSP00000385189.1",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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": "ENST00000402578.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "ENST00000403097.6",
"protein_id": "ENSP00000385544.2",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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": "ENST00000403097.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "ENST00000407526.6",
"protein_id": "ENSP00000385046.1",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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": "ENST00000407526.6"
},
{
"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": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.847-1346C>G",
"hgvs_p": null,
"transcript": "ENST00000357271.9",
"protein_id": "ENSP00000349818.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357271.9"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Thr372Ser",
"transcript": "NM_001371009.1",
"protein_id": "NP_001357938.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 643,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371009.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.1082C>G",
"hgvs_p": "p.Thr361Ser",
"transcript": "NM_001350815.2",
"protein_id": "NP_001337744.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 632,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350815.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.1082C>G",
"hgvs_p": "p.Thr361Ser",
"transcript": "ENST00000644879.1",
"protein_id": "ENSP00000493728.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 632,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644879.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.968C>G",
"hgvs_p": "p.Thr323Ser",
"transcript": "ENST00000918860.1",
"protein_id": "ENSP00000588919.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 603,
"cds_start": 968,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918860.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.968C>G",
"hgvs_p": "p.Thr323Ser",
"transcript": "ENST00000876184.1",
"protein_id": "ENSP00000546243.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 581,
"cds_start": 968,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876184.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.968C>G",
"hgvs_p": "p.Thr323Ser",
"transcript": "ENST00000918859.1",
"protein_id": "ENSP00000588918.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 581,
"cds_start": 968,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918859.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "NM_001001550.3",
"protein_id": "NP_001001550.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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_001001550.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "NM_001001555.3",
"protein_id": "NP_001001555.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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_001001555.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "NM_001350816.3",
"protein_id": "NP_001337745.2",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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_001350816.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "NM_001371008.1",
"protein_id": "NP_001357937.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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_001371008.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "ENST00000402497.6",
"protein_id": "ENSP00000385748.1",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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": "ENST00000402497.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "ENST00000406641.5",
"protein_id": "ENSP00000385366.1",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"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": "ENST00000406641.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "ENST00000643299.1",
"protein_id": "ENSP00000496245.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 794,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}