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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: 5-138824673-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138824673&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138824673,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001903.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "NM_001903.5",
"protein_id": "NP_001894.2",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "ENST00000302763.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001903.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000302763.12",
"protein_id": "ENSP00000304669.7",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "NM_001903.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302763.12"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000518825.5",
"protein_id": "ENSP00000427821.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 841,
"cds_start": 732,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518825.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "n.488A>G",
"hgvs_p": null,
"transcript": "ENST00000518919.1",
"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": 498,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000518919.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000965845.1",
"protein_id": "ENSP00000635904.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 959,
"cds_start": 732,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965845.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000930310.1",
"protein_id": "ENSP00000600369.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 954,
"cds_start": 732,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930310.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "NM_001323982.2",
"protein_id": "NP_001310911.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323982.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "NM_001323983.1",
"protein_id": "NP_001310912.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 3945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323983.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "NM_001323984.2",
"protein_id": "NP_001310913.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323984.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889697.1",
"protein_id": "ENSP00000559756.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889697.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889698.1",
"protein_id": "ENSP00000559757.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889698.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889703.1",
"protein_id": "ENSP00000559762.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 4215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889703.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889706.1",
"protein_id": "ENSP00000559765.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889706.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889707.1",
"protein_id": "ENSP00000559766.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889707.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889708.1",
"protein_id": "ENSP00000559767.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889708.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889709.1",
"protein_id": "ENSP00000559768.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889709.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889710.1",
"protein_id": "ENSP00000559769.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889710.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889712.1",
"protein_id": "ENSP00000559771.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889712.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889714.1",
"protein_id": "ENSP00000559773.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889714.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889715.1",
"protein_id": "ENSP00000559774.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889715.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889716.1",
"protein_id": "ENSP00000559775.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889716.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met",
"transcript": "ENST00000889718.1",
"protein_id": "ENSP00000559777.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 906,
"cds_start": 732,
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"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "n.*678A>G",
"hgvs_p": null,
"transcript": "ENST00000519309.5",
"protein_id": "ENSP00000430671.1",
"transcript_support_level": 3,
"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": 869,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519309.5"
}
],
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"dbsnp": "rs201899693",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4038380980491638,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.28,
"revel_prediction": "Benign",
"alphamissense_score": 0.3767,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.098,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001903.5",
"gene_symbol": "CTNNA1",
"hgnc_id": 2509,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.732A>G",
"hgvs_p": "p.Ile244Met"
}
],
"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
}