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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: 6-89606091-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=89606091&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 89606091,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001242809.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "NM_001242809.2",
"protein_id": "NP_001229738.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 727,
"cds_start": 403,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339746.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242809.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000339746.9",
"protein_id": "ENSP00000345767.4",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 727,
"cds_start": 403,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001242809.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339746.9"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000447838.6",
"protein_id": "ENSP00000396771.2",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 722,
"cds_start": 403,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447838.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000369408.9",
"protein_id": "ENSP00000358416.5",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 692,
"cds_start": 403,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369408.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "n.220C>G",
"hgvs_p": null,
"transcript": "ENST00000518253.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000518253.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LYRM2",
"gene_hgnc_id": 25229,
"hgvs_c": "n.*118-2982G>C",
"hgvs_p": null,
"transcript": "ENST00000412237.6",
"protein_id": "ENSP00000430316.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412237.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LYRM2",
"gene_hgnc_id": 25229,
"hgvs_c": "n.562+15630G>C",
"hgvs_p": null,
"transcript": "ENST00000520897.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000520897.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000960502.1",
"protein_id": "ENSP00000630561.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 766,
"cds_start": 403,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960502.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000960500.1",
"protein_id": "ENSP00000630559.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 753,
"cds_start": 403,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960500.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.478C>G",
"hgvs_p": "p.Leu160Val",
"transcript": "ENST00000710308.1",
"protein_id": "ENSP00000518190.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 752,
"cds_start": 478,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710308.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "NM_001242811.1",
"protein_id": "NP_001229740.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 727,
"cds_start": 403,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242811.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000522441.5",
"protein_id": "ENSP00000430985.1",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 727,
"cds_start": 403,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522441.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000862698.1",
"protein_id": "ENSP00000532757.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 727,
"cds_start": 403,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862698.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000960510.1",
"protein_id": "ENSP00000630569.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 727,
"cds_start": 403,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960510.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "NM_014942.4",
"protein_id": "NP_055757.3",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 722,
"cds_start": 403,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014942.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000862695.1",
"protein_id": "ENSP00000532754.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 701,
"cds_start": 403,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862695.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000913471.1",
"protein_id": "ENSP00000583530.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 696,
"cds_start": 403,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913471.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000862689.1",
"protein_id": "ENSP00000532748.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 694,
"cds_start": 403,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862689.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Leu102Val",
"transcript": "ENST00000862699.1",
"protein_id": "ENSP00000532758.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 694,
"cds_start": 304,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862699.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000960501.1",
"protein_id": "ENSP00000630560.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 694,
"cds_start": 403,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960501.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "ENST00000960515.1",
"protein_id": "ENSP00000630574.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 694,
"cds_start": 403,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960515.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val",
"transcript": "NM_001242813.1",
"protein_id": "NP_001229742.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 692,
"cds_start": 403,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242813.1"
},
{
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"computational_score_selected": 0.16495931148529053,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.1642,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.853,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001242809.2",
"gene_symbol": "ANKRD6",
"hgnc_id": 17280,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Leu135Val"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000412237.6",
"gene_symbol": "LYRM2",
"hgnc_id": 25229,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*118-2982G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007059673.1",
"gene_symbol": "LOC124901359",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.206-160G>C",
"hgvs_p": null
}
],
"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
}