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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: 2-97196724-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=97196724&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 97196724,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001354587.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "NM_001354587.1",
"protein_id": "NP_001341516.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1915,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": "ENST00000420699.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354587.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "ENST00000420699.9",
"protein_id": "ENSP00000391950.4",
"transcript_support_level": 5,
"aa_start": 863,
"aa_end": null,
"aa_length": 1915,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": "NM_001354587.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420699.9"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "ENST00000461153.7",
"protein_id": "ENSP00000419530.3",
"transcript_support_level": 5,
"aa_start": 863,
"aa_end": null,
"aa_length": 1915,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 2833,
"cdna_end": null,
"cdna_length": 6024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461153.7"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "ENST00000652721.1",
"protein_id": "ENSP00000498611.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1915,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 7623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652721.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_006712514.4",
"protein_id": "XP_006712577.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1915,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 11507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712514.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_017004009.2",
"protein_id": "XP_016859498.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1915,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 6625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004009.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_047444227.1",
"protein_id": "XP_047300183.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1915,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 12107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444227.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_017004010.2",
"protein_id": "XP_016859499.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1914,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 6531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004010.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_047444229.1",
"protein_id": "XP_047300185.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1914,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 12104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444229.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_047444230.1",
"protein_id": "XP_047300186.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1914,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 11504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444230.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_017004011.2",
"protein_id": "XP_016859500.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004011.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_017004012.2",
"protein_id": "XP_016859501.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004012.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2487T>G",
"hgvs_p": "p.Ser829Arg",
"transcript": "XM_017004013.2",
"protein_id": "XP_016859502.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2487,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004013.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_017004014.2",
"protein_id": "XP_016859503.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004014.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2487T>G",
"hgvs_p": "p.Ser829Arg",
"transcript": "XM_017004015.2",
"protein_id": "XP_016859504.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2487,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004015.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_017004016.2",
"protein_id": "XP_016859505.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2589,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004016.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2487T>G",
"hgvs_p": "p.Ser829Arg",
"transcript": "XM_017004017.2",
"protein_id": "XP_016859506.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2487,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004017.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2487T>G",
"hgvs_p": "p.Ser829Arg",
"transcript": "XM_017004018.2",
"protein_id": "XP_016859507.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2487,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004018.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2487T>G",
"hgvs_p": "p.Ser829Arg",
"transcript": "XM_017004019.2",
"protein_id": "XP_016859508.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2487,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004019.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2487T>G",
"hgvs_p": "p.Ser829Arg",
"transcript": "XM_017004020.2",
"protein_id": "XP_016859509.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2487,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004020.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2487T>G",
"hgvs_p": "p.Ser829Arg",
"transcript": "XM_017004022.2",
"protein_id": "XP_016859511.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2487,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004022.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36",
"gene_hgnc_id": 24079,
"hgvs_c": "c.2589T>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_017004023.2",
"protein_id": "XP_016859512.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1881,
"cds_start": 2589,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": " autosomal recessive,Hearing loss",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hearing loss, autosomal recessive",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}