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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: 7-99452415-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99452415&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99452415,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006693.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "NM_006693.4",
"protein_id": "NP_006684.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 269,
"cds_start": 545,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292476.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006693.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000292476.10",
"protein_id": "ENSP00000292476.5",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 269,
"cds_start": 545,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006693.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292476.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000436336.6",
"protein_id": "ENSP00000395311.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 244,
"cds_start": 545,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436336.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP5MF-PTCD1",
"gene_hgnc_id": 38844,
"hgvs_c": "c.121+7671G>A",
"hgvs_p": null,
"transcript": "ENST00000413834.5",
"protein_id": "ENSP00000400168.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": null,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413834.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000967756.1",
"protein_id": "ENSP00000637815.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 329,
"cds_start": 545,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967756.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000887794.1",
"protein_id": "ENSP00000557852.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 299,
"cds_start": 545,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887794.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000967757.1",
"protein_id": "ENSP00000637816.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 298,
"cds_start": 545,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967757.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000967755.1",
"protein_id": "ENSP00000637814.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 277,
"cds_start": 545,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967755.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000967758.1",
"protein_id": "ENSP00000637817.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 273,
"cds_start": 545,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967758.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000887790.1",
"protein_id": "ENSP00000557849.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 272,
"cds_start": 545,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887790.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "NM_001318161.2",
"protein_id": "NP_001305090.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 262,
"cds_start": 451,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318161.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000926771.1",
"protein_id": "ENSP00000596830.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 254,
"cds_start": 545,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926771.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000926770.1",
"protein_id": "ENSP00000596829.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 252,
"cds_start": 545,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926770.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000887791.1",
"protein_id": "ENSP00000557850.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 251,
"cds_start": 545,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887791.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "NM_001081559.3",
"protein_id": "NP_001075028.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 244,
"cds_start": 545,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081559.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "NM_001318160.2",
"protein_id": "NP_001305089.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 243,
"cds_start": 545,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318160.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000887788.1",
"protein_id": "ENSP00000557847.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 243,
"cds_start": 545,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887788.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"transcript": "ENST00000452047.1",
"protein_id": "ENSP00000392584.1",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 228,
"cds_start": 352,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452047.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "ENST00000887795.1",
"protein_id": "ENSP00000557854.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 218,
"cds_start": 392,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887795.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Pro150Leu",
"transcript": "ENST00000967753.1",
"protein_id": "ENSP00000637812.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 212,
"cds_start": 449,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967753.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Pro150Leu",
"transcript": "ENST00000451876.5",
"protein_id": "ENSP00000396060.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 211,
"cds_start": 449,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451876.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF4",
"gene_hgnc_id": 2327,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "ENST00000967754.1",
"protein_id": "ENSP00000637813.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 193,
"cds_start": 392,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"phenotype_combined": "not specified",
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"custom_annotations": null
}
],
"message": null
}