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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: 2-118981487-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=118981487&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 118981487,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006770.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "NM_006770.4",
"protein_id": "NP_006761.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 520,
"cds_start": 845,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327097.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006770.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000327097.5",
"protein_id": "ENSP00000318916.4",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 520,
"cds_start": 845,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006770.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327097.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000874357.1",
"protein_id": "ENSP00000544416.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 549,
"cds_start": 845,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874357.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000958830.1",
"protein_id": "ENSP00000628889.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 534,
"cds_start": 845,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958830.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000874354.1",
"protein_id": "ENSP00000544413.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 526,
"cds_start": 845,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874354.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Phe292Ser",
"transcript": "ENST00000874358.1",
"protein_id": "ENSP00000544417.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 526,
"cds_start": 875,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874358.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Phe279Ser",
"transcript": "ENST00000958823.1",
"protein_id": "ENSP00000628882.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 517,
"cds_start": 836,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958823.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000958825.1",
"protein_id": "ENSP00000628884.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 517,
"cds_start": 845,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958825.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000958829.1",
"protein_id": "ENSP00000628888.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 517,
"cds_start": 845,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958829.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000874356.1",
"protein_id": "ENSP00000544415.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 516,
"cds_start": 845,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874356.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.809T>C",
"hgvs_p": "p.Phe270Ser",
"transcript": "ENST00000874351.1",
"protein_id": "ENSP00000544410.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 508,
"cds_start": 809,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874351.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000874349.1",
"protein_id": "ENSP00000544408.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 505,
"cds_start": 845,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874349.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.800T>C",
"hgvs_p": "p.Phe267Ser",
"transcript": "ENST00000874352.1",
"protein_id": "ENSP00000544411.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 505,
"cds_start": 800,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874352.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.800T>C",
"hgvs_p": "p.Phe267Ser",
"transcript": "ENST00000958832.1",
"protein_id": "ENSP00000628891.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 505,
"cds_start": 800,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958832.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000874353.1",
"protein_id": "ENSP00000544412.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 487,
"cds_start": 845,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874353.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000958833.1",
"protein_id": "ENSP00000628892.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 487,
"cds_start": 845,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958833.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Phe246Ser",
"transcript": "ENST00000958826.1",
"protein_id": "ENSP00000628885.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 484,
"cds_start": 737,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958826.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000958828.1",
"protein_id": "ENSP00000628887.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 472,
"cds_start": 845,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958828.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Phe282Ser",
"transcript": "ENST00000958824.1",
"protein_id": "ENSP00000628883.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 461,
"cds_start": 845,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958824.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Phe246Ser",
"transcript": "ENST00000874355.1",
"protein_id": "ENSP00000544414.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 451,
"cds_start": 737,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874355.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.620T>C",
"hgvs_p": "p.Phe207Ser",
"transcript": "ENST00000958831.1",
"protein_id": "ENSP00000628890.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 445,
"cds_start": 620,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958831.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.584T>C",
"hgvs_p": "p.Phe195Ser",
"transcript": "ENST00000958827.1",
"protein_id": "ENSP00000628886.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 433,
"cds_start": 584,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958827.1"
},
{
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}