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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: 7-50703851-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=50703851&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 50703851,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000401949.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "NM_001350814.2",
"protein_id": "NP_001337743.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 594,
"cds_start": 109,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": "ENST00000401949.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000401949.6",
"protein_id": "ENSP00000385770.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 594,
"cds_start": 109,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": "NM_001350814.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000398812.6",
"protein_id": "ENSP00000381793.2",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 594,
"cds_start": 109,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "ENST00000357271.9",
"protein_id": "ENSP00000349818.5",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 548,
"cds_start": 109,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-66G>T",
"hgvs_p": null,
"transcript": "ENST00000335866.7",
"protein_id": "ENSP00000338543.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-66G>T",
"hgvs_p": null,
"transcript": "ENST00000398810.6",
"protein_id": "ENSP00000381790.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-66G>T",
"hgvs_p": null,
"transcript": "ENST00000403097.6",
"protein_id": "ENSP00000385544.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-66G>T",
"hgvs_p": null,
"transcript": "ENST00000407526.6",
"protein_id": "ENSP00000385046.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-36+22162G>T",
"hgvs_p": null,
"transcript": "ENST00000402578.5",
"protein_id": "ENSP00000385189.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "NM_001001549.3",
"protein_id": "NP_001001549.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 548,
"cds_start": 109,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "XM_017012034.2",
"protein_id": "XP_016867523.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 639,
"cds_start": 109,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 5080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "XM_047420232.1",
"protein_id": "XP_047276188.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 639,
"cds_start": 109,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 4935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Ala31Ser",
"transcript": "XM_047420233.1",
"protein_id": "XP_047276189.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 633,
"cds_start": 91,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 5099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Ala31Ser",
"transcript": "XM_047420234.1",
"protein_id": "XP_047276190.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 633,
"cds_start": 91,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 5389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Ala31Ser",
"transcript": "XM_047420235.1",
"protein_id": "XP_047276191.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 633,
"cds_start": 91,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Ala31Ser",
"transcript": "XM_047420236.1",
"protein_id": "XP_047276192.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 633,
"cds_start": 91,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Ala31Ser",
"transcript": "XM_047420237.1",
"protein_id": "XP_047276193.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 633,
"cds_start": 91,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Ala31Ser",
"transcript": "XM_047420238.1",
"protein_id": "XP_047276194.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 633,
"cds_start": 91,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Ala31Ser",
"transcript": "XM_047420240.1",
"protein_id": "XP_047276196.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 633,
"cds_start": 91,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 5283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Ala37Ser",
"transcript": "XM_047420241.1",
"protein_id": "XP_047276197.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 594,
"cds_start": 109,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Ala31Ser",
"transcript": "XM_047420243.1",
"protein_id": "XP_047276199.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 588,
"cds_start": 91,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 4964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Ala31Ser",
"transcript": "XM_047420244.1",
"protein_id": "XP_047276200.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 588,
"cds_start": 91,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 5148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "n.439G>T",
"hgvs_p": null,
"transcript": "ENST00000644716.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}