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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: 17-74305396-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74305396&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74305396,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001353167.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "NM_023036.6",
"protein_id": "NP_075462.3",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 605,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311014.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023036.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "ENST00000311014.11",
"protein_id": "ENSP00000308312.6",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 605,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023036.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311014.11"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1336C>A",
"hgvs_p": "p.Arg446Ser",
"transcript": "ENST00000579490.5",
"protein_id": "ENSP00000464197.1",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 662,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579490.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "ENST00000446837.2",
"protein_id": "ENSP00000400252.2",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 605,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446837.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "ENST00000582036.5",
"protein_id": "ENSP00000461950.1",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 593,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582036.5"
},
{
"aa_ref": "R",
"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": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "NM_001353167.2",
"protein_id": "NP_001340096.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 649,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353167.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "ENST00000856951.1",
"protein_id": "ENSP00000527010.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 605,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856951.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "ENST00000856952.1",
"protein_id": "ENSP00000527011.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 605,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856952.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "ENST00000856953.1",
"protein_id": "ENSP00000527012.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 605,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856953.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "ENST00000856954.1",
"protein_id": "ENSP00000527013.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 605,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856954.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "ENST00000856955.1",
"protein_id": "ENSP00000527014.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 605,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856955.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "ENST00000962604.1",
"protein_id": "ENSP00000632663.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 605,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962604.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "NM_001172810.3",
"protein_id": "NP_001166281.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 593,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172810.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1051C>A",
"hgvs_p": "p.Arg351Ser",
"transcript": "ENST00000927504.1",
"protein_id": "ENSP00000597563.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 567,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927504.1"
},
{
"aa_ref": "R",
"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": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Ser",
"transcript": "XM_011525125.3",
"protein_id": "XP_011523427.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 649,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525125.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "n.*536C>A",
"hgvs_p": null,
"transcript": "ENST00000579055.5",
"protein_id": "ENSP00000462767.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000579055.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "n.1166C>A",
"hgvs_p": null,
"transcript": "NR_148379.2",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148379.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "n.1361C>A",
"hgvs_p": null,
"transcript": "XR_007065388.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007065388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "n.1285C>A",
"hgvs_p": null,
"transcript": "XR_007065389.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007065389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "n.1259C>A",
"hgvs_p": null,
"transcript": "XR_007065390.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007065390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "n.1262C>A",
"hgvs_p": null,
"transcript": "XR_007065391.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007065391.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI2",
"gene_hgnc_id": 18744,
"hgvs_c": "n.1246C>A",
"hgvs_p": null,
"transcript": "XR_007065393.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007065393.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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{
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"verdict": "Uncertain_significance",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}