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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: 16-1558004-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1558004&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1558004,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014714.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "NM_014714.4",
"protein_id": "NP_055529.2",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000426508.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014714.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "ENST00000426508.7",
"protein_id": "ENSP00000406012.2",
"transcript_support_level": 5,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014714.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426508.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "ENST00000889170.1",
"protein_id": "ENSP00000559229.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889170.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "ENST00000962400.1",
"protein_id": "ENSP00000632459.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962400.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "ENST00000962401.1",
"protein_id": "ENSP00000632460.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962401.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "ENST00000962402.1",
"protein_id": "ENSP00000632461.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962402.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "ENST00000889168.1",
"protein_id": "ENSP00000559227.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1441,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889168.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "ENST00000889169.1",
"protein_id": "ENSP00000559228.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1424,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889169.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "ENST00000914239.1",
"protein_id": "ENSP00000584298.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1424,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914239.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "XM_006720990.4",
"protein_id": "XP_006721053.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720990.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "XM_006720991.4",
"protein_id": "XP_006721054.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720991.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "XM_047434965.1",
"protein_id": "XP_047290921.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434965.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "XM_047434966.1",
"protein_id": "XP_047290922.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434966.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "XM_047434967.1",
"protein_id": "XP_047290923.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434967.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "XM_047434968.1",
"protein_id": "XP_047290924.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434968.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "XM_047434969.1",
"protein_id": "XP_047290925.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2330,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434969.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2084T>G",
"hgvs_p": "p.Leu695Arg",
"transcript": "XM_047434970.1",
"protein_id": "XP_047290926.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1380,
"cds_start": 2084,
"cds_end": null,
"cds_length": 4143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434970.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.1355T>G",
"hgvs_p": "p.Leu452Arg",
"transcript": "XM_011522767.2",
"protein_id": "XP_011521069.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1355,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522767.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.515T>G",
"hgvs_p": "p.Leu172Arg",
"transcript": "XM_047434971.1",
"protein_id": "XP_047290927.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 857,
"cds_start": 515,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434971.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "XM_011522769.4",
"protein_id": "XP_011521071.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 817,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522769.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "XM_047434972.1",
"protein_id": "XP_047290928.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 811,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434972.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2330T>G",
"hgvs_p": "p.Leu777Arg",
"transcript": "XM_005255725.6",
"protein_id": "XP_005255782.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 807,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "Saldino-Mainzer syndrome|Saldino-Mainzer syndrome;Retinitis pigmentosa 80|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}