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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: 5-138924596-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138924596&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138924596,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000302763.12",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "NM_001903.5",
"protein_id": "NP_001894.2",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 906,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "ENST00000302763.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "ENST00000302763.12",
"protein_id": "ENSP00000304669.7",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 906,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "NM_001903.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "ENST00000518825.5",
"protein_id": "ENSP00000427821.1",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 841,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "ENST00000540387.5",
"protein_id": "ENSP00000438476.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 536,
"cds_start": 523,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "NM_001323982.2",
"protein_id": "NP_001310911.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 906,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "NM_001323983.1",
"protein_id": "NP_001310912.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 906,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 3945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "NM_001323984.2",
"protein_id": "NP_001310913.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 906,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "NM_001323985.2",
"protein_id": "NP_001310914.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 897,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1540A>C",
"hgvs_p": "p.Ile514Leu",
"transcript": "NM_001323986.2",
"protein_id": "NP_001310915.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 875,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "NM_001290307.3",
"protein_id": "NP_001277236.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 841,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu",
"transcript": "ENST00000627109.2",
"protein_id": "ENSP00000486200.1",
"transcript_support_level": 5,
"aa_start": 545,
"aa_end": null,
"aa_length": 841,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1324A>C",
"hgvs_p": "p.Ile442Leu",
"transcript": "NM_001290309.3",
"protein_id": "NP_001277238.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 803,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1264A>C",
"hgvs_p": "p.Ile422Leu",
"transcript": "NM_001290310.3",
"protein_id": "NP_001277239.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 783,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "NM_001290312.1",
"protein_id": "NP_001277241.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 536,
"cds_start": 523,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "NM_001323987.1",
"protein_id": "NP_001310916.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 536,
"cds_start": 523,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "NM_001323988.1",
"protein_id": "NP_001310917.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 536,
"cds_start": 523,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "NM_001323989.1",
"protein_id": "NP_001310918.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 536,
"cds_start": 523,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "NM_001323990.1",
"protein_id": "NP_001310919.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 536,
"cds_start": 523,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "NM_001323991.1",
"protein_id": "NP_001310920.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 536,
"cds_start": 523,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "NM_001323992.1",
"protein_id": "NP_001310921.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 536,
"cds_start": 523,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "NM_001323993.1",
"protein_id": "NP_001310922.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 536,
"cds_start": 523,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Ile175Leu",
"transcript": "NM_001323994.1",
"protein_id": "NP_001310923.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 536,
"cds_start": 523,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "CTNNA1",
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"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "n.*1323A>C",
"hgvs_p": null,
"transcript": "ENST00000521724.5",
"protein_id": "ENSP00000431033.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"dbsnp": "rs1060502220",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6330525875091553,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.245,
"revel_prediction": "Benign",
"alphamissense_score": 0.9305,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.514,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000302763.12",
"gene_symbol": "CTNNA1",
"hgnc_id": 2509,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1633A>C",
"hgvs_p": "p.Ile545Leu"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}