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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: X-13735252-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=13735252&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 13735252,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003611.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asn6Ser",
"transcript": "NM_003611.3",
"protein_id": "NP_003602.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1012,
"cds_start": 17,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": "ENST00000340096.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asn6Ser",
"transcript": "ENST00000340096.11",
"protein_id": "ENSP00000344314.6",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 1012,
"cds_start": 17,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": "NM_003611.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asn6Ser",
"transcript": "ENST00000380550.6",
"protein_id": "ENSP00000369923.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 972,
"cds_start": 17,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asn6Ser",
"transcript": "NM_001440947.1",
"protein_id": "NP_001427876.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 975,
"cds_start": 17,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asn6Ser",
"transcript": "NM_001330209.2",
"protein_id": "NP_001317138.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 972,
"cds_start": 17,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asn6Ser",
"transcript": "NM_001440948.1",
"protein_id": "NP_001427877.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 935,
"cds_start": 17,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Asn13Ser",
"transcript": "XM_047442583.1",
"protein_id": "XP_047298539.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1019,
"cds_start": 38,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Asn13Ser",
"transcript": "XM_047442584.1",
"protein_id": "XP_047298540.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1006,
"cds_start": 38,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 8328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Asn13Ser",
"transcript": "XM_047442585.1",
"protein_id": "XP_047298541.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 982,
"cds_start": 38,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Asn13Ser",
"transcript": "XM_047442586.1",
"protein_id": "XP_047298542.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 979,
"cds_start": 38,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 4446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Asn13Ser",
"transcript": "XM_047442588.1",
"protein_id": "XP_047298544.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 969,
"cds_start": 38,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 8217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Asn13Ser",
"transcript": "XM_047442589.1",
"protein_id": "XP_047298545.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 942,
"cds_start": 38,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Asn13Ser",
"transcript": "XM_047442591.1",
"protein_id": "XP_047298547.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 876,
"cds_start": 38,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asn6Ser",
"transcript": "XM_047442592.1",
"protein_id": "XP_047298548.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 869,
"cds_start": 17,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Asn13Ser",
"transcript": "XM_047442593.1",
"protein_id": "XP_047298549.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 836,
"cds_start": 38,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Asn13Ser",
"transcript": "XM_047442594.1",
"protein_id": "XP_047298550.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 836,
"cds_start": 38,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asn6Ser",
"transcript": "XM_047442595.1",
"protein_id": "XP_047298551.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 829,
"cds_start": 17,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asn6Ser",
"transcript": "XM_047442596.1",
"protein_id": "XP_047298552.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 829,
"cds_start": 17,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asn6Ser",
"transcript": "XM_047442597.1",
"protein_id": "XP_047298553.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 789,
"cds_start": 17,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.17A>G",
"hgvs_p": null,
"transcript": "ENST00000380567.6",
"protein_id": "ENSP00000369941.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.17A>G",
"hgvs_p": null,
"transcript": "ENST00000398395.8",
"protein_id": "ENSP00000381432.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.300A>G",
"hgvs_p": null,
"transcript": "ENST00000464463.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "n.510A>G",
"hgvs_p": null,
"transcript": "ENST00000485052.6",
"protein_id": null,
"transcript_support_level": 3,
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{
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],
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "Joubert syndrome;Orofaciodigital syndrome I",
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}
],
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}