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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: 13-32407334-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32407334&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 32407334,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001353627.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "NM_052818.3",
"protein_id": "NP_438169.2",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 243,
"cds_start": 312,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380130.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052818.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "ENST00000380130.7",
"protein_id": "ENSP00000369473.2",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 243,
"cds_start": 312,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052818.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380130.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "ENST00000380133.6",
"protein_id": "ENSP00000369476.2",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 243,
"cds_start": 312,
"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": "ENST00000380133.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "ENST00000380139.8",
"protein_id": "ENSP00000369484.3",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 173,
"cds_start": 312,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380139.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.588A>C",
"hgvs_p": "p.Arg196Ser",
"transcript": "NM_001353627.2",
"protein_id": "NP_001340556.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 335,
"cds_start": 588,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353627.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.588A>C",
"hgvs_p": "p.Arg196Ser",
"transcript": "NM_001353628.2",
"protein_id": "NP_001340557.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 265,
"cds_start": 588,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353628.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.354A>C",
"hgvs_p": "p.Arg118Ser",
"transcript": "NM_001353629.2",
"protein_id": "NP_001340558.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 257,
"cds_start": 354,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353629.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "NM_001286459.2",
"protein_id": "NP_001273388.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 243,
"cds_start": 312,
"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_001286459.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "ENST00000970430.1",
"protein_id": "ENSP00000640489.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 242,
"cds_start": 312,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970430.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "ENST00000970429.1",
"protein_id": "ENSP00000640488.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 217,
"cds_start": 312,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970429.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "NM_001353630.2",
"protein_id": "NP_001340559.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 204,
"cds_start": 312,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353630.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.354A>C",
"hgvs_p": "p.Arg118Ser",
"transcript": "NM_001353631.2",
"protein_id": "NP_001340560.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 202,
"cds_start": 354,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353631.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "NM_001353632.2",
"protein_id": "NP_001340561.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 188,
"cds_start": 312,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353632.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Arg48Ser",
"transcript": "NM_001353633.2",
"protein_id": "NP_001340562.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 187,
"cds_start": 144,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353633.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "NM_001286460.2",
"protein_id": "NP_001273389.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 181,
"cds_start": 312,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286460.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "NM_001286461.2",
"protein_id": "NP_001273390.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 181,
"cds_start": 312,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286461.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "NM_001079691.2",
"protein_id": "NP_001073159.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 173,
"cds_start": 312,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079691.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "ENST00000613078.4",
"protein_id": "ENSP00000483310.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 173,
"cds_start": 312,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613078.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.243A>C",
"hgvs_p": "p.Arg81Ser",
"transcript": "ENST00000635608.1",
"protein_id": "ENSP00000489423.1",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 165,
"cds_start": 243,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635608.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.243A>C",
"hgvs_p": "p.Arg81Ser",
"transcript": "ENST00000495479.5",
"protein_id": "ENSP00000475237.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 158,
"cds_start": 243,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495479.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.312A>C",
"hgvs_p": "p.Arg104Ser",
"transcript": "NM_001353634.2",
"protein_id": "NP_001340563.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 150,
"cds_start": 312,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353634.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.585A>C",
"hgvs_p": "p.Arg195Ser",
"transcript": "XM_047430761.1",
"protein_id": "XP_047286717.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 334,
"cds_start": 585,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"inheritance_mode": "AR",
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"hgvs_p": "p.Arg196Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}