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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: 9-87728650-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=87728650&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 87728650,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001912.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "NM_001912.5",
"protein_id": "NP_001903.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": "ENST00000343150.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001912.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000343150.10",
"protein_id": "ENSP00000345344.5",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": "NM_001912.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343150.10"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000340342.11",
"protein_id": "ENSP00000365061.5",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340342.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "n.759A>T",
"hgvs_p": null,
"transcript": "ENST00000495822.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495822.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000678596.1",
"protein_id": "ENSP00000503146.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 341,
"cds_start": 462,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678596.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000678649.1",
"protein_id": "ENSP00000504772.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 341,
"cds_start": 462,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678649.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "NM_001257971.2",
"protein_id": "NP_001244900.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257971.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "NM_001257972.2",
"protein_id": "NP_001244901.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257972.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "NM_001382757.1",
"protein_id": "NP_001369686.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382757.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "NM_145918.3",
"protein_id": "NP_666023.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145918.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000676480.1",
"protein_id": "ENSP00000504279.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676480.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000676531.1",
"protein_id": "ENSP00000503439.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676531.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000676881.1",
"protein_id": "ENSP00000502901.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676881.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000676946.1",
"protein_id": "ENSP00000503470.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676946.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000677262.1",
"protein_id": "ENSP00000503851.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677262.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000677761.1",
"protein_id": "ENSP00000503938.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677761.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000677821.1",
"protein_id": "ENSP00000503298.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677821.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000678442.1",
"protein_id": "ENSP00000503897.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678442.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000679149.1",
"protein_id": "ENSP00000504313.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679149.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000679157.1",
"protein_id": "ENSP00000502968.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679157.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000882604.1",
"protein_id": "ENSP00000552663.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882604.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "CTSL",
"gene_hgnc_id": 2537,
"hgvs_c": "c.462A>T",
"hgvs_p": "p.Lys154Asn",
"transcript": "ENST00000882605.1",
"protein_id": "ENSP00000552664.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 333,
"cds_start": 462,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}