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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: 5-138934082-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138934082&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138934082,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000302763.12",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2714G>A",
"hgvs_p": "p.Ser905Asn",
"transcript": "NM_001903.5",
"protein_id": "NP_001894.2",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 906,
"cds_start": 2714,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "ENST00000302763.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2714G>A",
"hgvs_p": "p.Ser905Asn",
"transcript": "ENST00000302763.12",
"protein_id": "ENSP00000304669.7",
"transcript_support_level": 1,
"aa_start": 905,
"aa_end": null,
"aa_length": 906,
"cds_start": 2714,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "NM_001903.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "ENST00000540387.5",
"protein_id": "ENSP00000438476.1",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.*259G>A",
"hgvs_p": null,
"transcript": "ENST00000518825.5",
"protein_id": "ENSP00000427821.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2714G>A",
"hgvs_p": "p.Ser905Asn",
"transcript": "NM_001323982.2",
"protein_id": "NP_001310911.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 906,
"cds_start": 2714,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3272,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2714G>A",
"hgvs_p": "p.Ser905Asn",
"transcript": "NM_001323983.1",
"protein_id": "NP_001310912.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 906,
"cds_start": 2714,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 3945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2714G>A",
"hgvs_p": "p.Ser905Asn",
"transcript": "NM_001323984.2",
"protein_id": "NP_001310913.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 906,
"cds_start": 2714,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2687G>A",
"hgvs_p": "p.Ser896Asn",
"transcript": "NM_001323985.2",
"protein_id": "NP_001310914.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 897,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2621G>A",
"hgvs_p": "p.Ser874Asn",
"transcript": "NM_001323986.2",
"protein_id": "NP_001310915.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 875,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2709,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2405G>A",
"hgvs_p": "p.Ser802Asn",
"transcript": "NM_001290309.3",
"protein_id": "NP_001277238.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 803,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2345G>A",
"hgvs_p": "p.Ser782Asn",
"transcript": "NM_001290310.3",
"protein_id": "NP_001277239.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 783,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 2639,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001290312.1",
"protein_id": "NP_001277241.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001323987.1",
"protein_id": "NP_001310916.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001323988.1",
"protein_id": "NP_001310917.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001323989.1",
"protein_id": "NP_001310918.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001323990.1",
"protein_id": "NP_001310919.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
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"cds_length": 1611,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001323991.1",
"protein_id": "NP_001310920.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001323992.1",
"protein_id": "NP_001310921.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001323993.1",
"protein_id": "NP_001310922.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
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"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001323994.1",
"protein_id": "NP_001310923.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001323995.1",
"protein_id": "NP_001310924.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1604G>A",
"hgvs_p": "p.Ser535Asn",
"transcript": "NM_001323996.1",
"protein_id": "NP_001310925.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
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"phylop100way_score": 6.398,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000302763.12",
"gene_symbol": "CTNNA1",
"hgnc_id": 2509,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2714G>A",
"hgvs_p": "p.Ser905Asn"
}
],
"clinvar_disease": "CTNNA1-related disorder,Hereditary cancer-predisposing syndrome,Patterned macular dystrophy 2,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome|CTNNA1-related disorder|Patterned macular dystrophy 2",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}