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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: 2-27445435-TTCTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27445435&ref=TTCTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27445435,
"ref": "TTCTC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_015662.3",
"consequences": [
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4925_4928delGAGA",
"hgvs_p": "p.Arg1642fs",
"transcript": "NM_015662.3",
"protein_id": "NP_056477.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1749,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260570.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015662.3"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4925_4928delGAGA",
"hgvs_p": "p.Arg1642fs",
"transcript": "ENST00000260570.8",
"protein_id": "ENSP00000260570.3",
"transcript_support_level": 1,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1749,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015662.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260570.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*370_*373delGAGA",
"hgvs_p": null,
"transcript": "ENST00000509128.5",
"protein_id": "ENSP00000427255.1",
"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": "ENST00000509128.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*370_*373delGAGA",
"hgvs_p": null,
"transcript": "ENST00000509128.5",
"protein_id": "ENSP00000427255.1",
"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": "ENST00000509128.5"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.5036_5039delGAGA",
"hgvs_p": "p.Arg1679fs",
"transcript": "ENST00000945698.1",
"protein_id": "ENSP00000615757.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1786,
"cds_start": 5036,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945698.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4859_4862delGAGA",
"hgvs_p": "p.Arg1620fs",
"transcript": "NM_001410739.1",
"protein_id": "NP_001397668.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1727,
"cds_start": 4859,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410739.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4859_4862delGAGA",
"hgvs_p": "p.Arg1620fs",
"transcript": "ENST00000675690.1",
"protein_id": "ENSP00000502283.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1727,
"cds_start": 4859,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675690.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4826_4829delGAGA",
"hgvs_p": "p.Arg1609fs",
"transcript": "ENST00000923256.1",
"protein_id": "ENSP00000593315.1",
"transcript_support_level": null,
"aa_start": 1609,
"aa_end": null,
"aa_length": 1716,
"cds_start": 4826,
"cds_end": null,
"cds_length": 5151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923256.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4817_4820delGAGA",
"hgvs_p": "p.Arg1606fs",
"transcript": "ENST00000872012.1",
"protein_id": "ENSP00000542071.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1713,
"cds_start": 4817,
"cds_end": null,
"cds_length": 5142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872012.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4796_4799delGAGA",
"hgvs_p": "p.Arg1599fs",
"transcript": "ENST00000945697.1",
"protein_id": "ENSP00000615756.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1706,
"cds_start": 4796,
"cds_end": null,
"cds_length": 5121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945697.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4862_4865delGAGA",
"hgvs_p": "p.Arg1621fs",
"transcript": "XM_006711986.4",
"protein_id": "XP_006712049.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1728,
"cds_start": 4862,
"cds_end": null,
"cds_length": 5187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711986.4"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4826_4829delGAGA",
"hgvs_p": "p.Arg1609fs",
"transcript": "XM_006711987.2",
"protein_id": "XP_006712050.1",
"transcript_support_level": null,
"aa_start": 1609,
"aa_end": null,
"aa_length": 1716,
"cds_start": 4826,
"cds_end": null,
"cds_length": 5151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711987.2"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4760_4763delGAGA",
"hgvs_p": "p.Arg1587fs",
"transcript": "XM_047443900.1",
"protein_id": "XP_047299856.1",
"transcript_support_level": null,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1694,
"cds_start": 4760,
"cds_end": null,
"cds_length": 5085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443900.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4244_4247delGAGA",
"hgvs_p": "p.Arg1415fs",
"transcript": "XM_047443901.1",
"protein_id": "XP_047299857.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1522,
"cds_start": 4244,
"cds_end": null,
"cds_length": 4569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443901.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4244_4247delGAGA",
"hgvs_p": "p.Arg1415fs",
"transcript": "XM_047443902.1",
"protein_id": "XP_047299858.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1522,
"cds_start": 4244,
"cds_end": null,
"cds_length": 4569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443902.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.3365_3368delGAGA",
"hgvs_p": "p.Arg1122fs",
"transcript": "XM_011532759.3",
"protein_id": "XP_011531061.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3365,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532759.3"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.3062_3065delGAGA",
"hgvs_p": "p.Arg1021fs",
"transcript": "XM_047443904.1",
"protein_id": "XP_047299860.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3062,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443904.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2990_2993delGAGA",
"hgvs_p": "p.Arg997fs",
"transcript": "XM_011532760.3",
"protein_id": "XP_011531062.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2990,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532760.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.*177_*180delTCTC",
"hgvs_p": null,
"transcript": "ENST00000872248.1",
"protein_id": "ENSP00000542307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872248.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.*6-861_*6-858delTCTC",
"hgvs_p": null,
"transcript": "NM_001168364.2",
"protein_id": "NP_001161836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168364.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.*6-861_*6-858delTCTC",
"hgvs_p": null,
"transcript": "ENST00000543753.5",
"protein_id": "ENSP00000442400.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543753.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.*6-861_*6-858delTCTC",
"hgvs_p": null,
"transcript": "ENST00000452499.1",
"protein_id": "ENSP00000388115.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": null,
"cds_end": null,
"cds_length": 189,
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"allele_count_reference_population": 5,
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"computational_score_selected": null,
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"computational_source_selected": null,
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
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"phylop100way_score": 7.595,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_015662.3",
"gene_symbol": "IFT172",
"hgnc_id": 30391,
"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4925_4928delGAGA",
"hgvs_p": "p.Arg1642fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
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"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001168364.2",
"gene_symbol": "KRTCAP3",
"hgnc_id": 28943,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.*6-861_*6-858delTCTC",
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}
],
"clinvar_disease": "Bardet-Biedl syndrome 20,Retinitis pigmentosa 71,Short-rib thoracic dysplasia 10 with or without polydactyly,Short-rib thoracic dysplasia 10 without polydactyly",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Short-rib thoracic dysplasia 10 without polydactyly|Retinitis pigmentosa 71;Short-rib thoracic dysplasia 10 with or without polydactyly;Bardet-Biedl syndrome 20|Retinitis pigmentosa 71;Short-rib thoracic dysplasia 10 with or without polydactyly",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}