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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: 10-122237461-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=122237461&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 122237461,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000369005.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.8194G>C",
"hgvs_p": "p.Ala2732Pro",
"transcript": "NM_206862.4",
"protein_id": "NP_996744.4",
"transcript_support_level": null,
"aa_start": 2732,
"aa_end": null,
"aa_length": 2948,
"cds_start": 8194,
"cds_end": null,
"cds_length": 8847,
"cdna_start": 8565,
"cdna_end": null,
"cdna_length": 9704,
"mane_select": "ENST00000369005.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.8194G>C",
"hgvs_p": "p.Ala2732Pro",
"transcript": "ENST00000369005.6",
"protein_id": "ENSP00000358001.1",
"transcript_support_level": 1,
"aa_start": 2732,
"aa_end": null,
"aa_length": 2948,
"cds_start": 8194,
"cds_end": null,
"cds_length": 8847,
"cdna_start": 8565,
"cdna_end": null,
"cdna_length": 9704,
"mane_select": "NM_206862.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7975G>C",
"hgvs_p": "p.Ala2659Pro",
"transcript": "ENST00000515273.5",
"protein_id": "ENSP00000424467.1",
"transcript_support_level": 1,
"aa_start": 2659,
"aa_end": null,
"aa_length": 2875,
"cds_start": 7975,
"cds_end": null,
"cds_length": 8628,
"cdna_start": 8303,
"cdna_end": null,
"cdna_length": 9245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7828G>C",
"hgvs_p": "p.Ala2610Pro",
"transcript": "ENST00000515603.5",
"protein_id": "ENSP00000427618.1",
"transcript_support_level": 1,
"aa_start": 2610,
"aa_end": null,
"aa_length": 2826,
"cds_start": 7828,
"cds_end": null,
"cds_length": 8481,
"cdna_start": 8156,
"cdna_end": null,
"cdna_length": 9101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Ala878Pro",
"transcript": "ENST00000513429.5",
"protein_id": "ENSP00000425062.1",
"transcript_support_level": 1,
"aa_start": 878,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.2428G>C",
"hgvs_p": "p.Ala810Pro",
"transcript": "ENST00000260733.7",
"protein_id": "ENSP00000260733.3",
"transcript_support_level": 1,
"aa_start": 810,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2428,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.2374G>C",
"hgvs_p": "p.Ala792Pro",
"transcript": "ENST00000369004.7",
"protein_id": "ENSP00000422815.1",
"transcript_support_level": 1,
"aa_start": 792,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2374,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.2338G>C",
"hgvs_p": "p.Ala780Pro",
"transcript": "ENST00000360561.7",
"protein_id": "ENSP00000353763.3",
"transcript_support_level": 1,
"aa_start": 780,
"aa_end": null,
"aa_length": 996,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2991,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.1063G>C",
"hgvs_p": "p.Ala355Pro",
"transcript": "ENST00000369000.5",
"protein_id": "ENSP00000357996.1",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 571,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2672,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "n.2347G>C",
"hgvs_p": null,
"transcript": "ENST00000368997.7",
"protein_id": null,
"transcript_support_level": 1,
"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": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.8194G>C",
"hgvs_p": "p.Ala2732Pro",
"transcript": "ENST00000334433.7",
"protein_id": "ENSP00000334280.2",
"transcript_support_level": 5,
"aa_start": 2732,
"aa_end": null,
"aa_length": 2948,
"cds_start": 8194,
"cds_end": null,
"cds_length": 8847,
"cdna_start": 8240,
"cdna_end": null,
"cdna_length": 9377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.8119G>C",
"hgvs_p": "p.Ala2707Pro",
"transcript": "NM_001438364.1",
"protein_id": "NP_001425293.1",
"transcript_support_level": null,
"aa_start": 2707,
"aa_end": null,
"aa_length": 2923,
"cds_start": 8119,
"cds_end": null,
"cds_length": 8772,
"cdna_start": 8243,
"cdna_end": null,
"cdna_length": 9382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7975G>C",
"hgvs_p": "p.Ala2659Pro",
"transcript": "NM_001291877.2",
"protein_id": "NP_001278806.2",
"transcript_support_level": null,
"aa_start": 2659,
"aa_end": null,
"aa_length": 2875,
"cds_start": 7975,
"cds_end": null,
"cds_length": 8628,
"cdna_start": 8346,
"cdna_end": null,
"cdna_length": 9485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7975G>C",
"hgvs_p": "p.Ala2659Pro",
"transcript": "ENST00000453444.6",
"protein_id": "ENSP00000395048.2",
"transcript_support_level": 5,
"aa_start": 2659,
"aa_end": null,
"aa_length": 2875,
"cds_start": 7975,
"cds_end": null,
"cds_length": 8628,
"cdna_start": 8021,
"cdna_end": null,
"cdna_length": 9158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7963G>C",
"hgvs_p": "p.Ala2655Pro",
"transcript": "NM_001438365.1",
"protein_id": "NP_001425294.1",
"transcript_support_level": null,
"aa_start": 2655,
"aa_end": null,
"aa_length": 2871,
"cds_start": 7963,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 8156,
"cdna_end": null,
"cdna_length": 9295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7951G>C",
"hgvs_p": "p.Ala2651Pro",
"transcript": "NM_001438366.1",
"protein_id": "NP_001425295.1",
"transcript_support_level": null,
"aa_start": 2651,
"aa_end": null,
"aa_length": 2867,
"cds_start": 7951,
"cds_end": null,
"cds_length": 8604,
"cdna_start": 8322,
"cdna_end": null,
"cdna_length": 9461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7837G>C",
"hgvs_p": "p.Ala2613Pro",
"transcript": "NM_001438367.1",
"protein_id": "NP_001425296.1",
"transcript_support_level": null,
"aa_start": 2613,
"aa_end": null,
"aa_length": 2829,
"cds_start": 7837,
"cds_end": null,
"cds_length": 8490,
"cdna_start": 8030,
"cdna_end": null,
"cdna_length": 9169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7828G>C",
"hgvs_p": "p.Ala2610Pro",
"transcript": "NM_001291876.2",
"protein_id": "NP_001278805.2",
"transcript_support_level": null,
"aa_start": 2610,
"aa_end": null,
"aa_length": 2826,
"cds_start": 7828,
"cds_end": null,
"cds_length": 8481,
"cdna_start": 8199,
"cdna_end": null,
"cdna_length": 9338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7828G>C",
"hgvs_p": "p.Ala2610Pro",
"transcript": "NM_001438368.1",
"protein_id": "NP_001425297.1",
"transcript_support_level": null,
"aa_start": 2610,
"aa_end": null,
"aa_length": 2826,
"cds_start": 7828,
"cds_end": null,
"cds_length": 8481,
"cdna_start": 8021,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7702G>C",
"hgvs_p": "p.Ala2568Pro",
"transcript": "NM_001438369.1",
"protein_id": "NP_001425298.1",
"transcript_support_level": null,
"aa_start": 2568,
"aa_end": null,
"aa_length": 2784,
"cds_start": 7702,
"cds_end": null,
"cds_length": 8355,
"cdna_start": 8073,
"cdna_end": null,
"cdna_length": 9212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.7702G>C",
"hgvs_p": "p.Ala2568Pro",
"transcript": "NM_001438370.1",
"protein_id": "NP_001425299.1",
"transcript_support_level": null,
"aa_start": 2568,
"aa_end": null,
"aa_length": 2784,
"cds_start": 7702,
"cds_end": null,
"cds_length": 8355,
"cdna_start": 7895,
"cdna_end": null,
"cdna_length": 9034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Ala878Pro",
"transcript": "NM_206861.3",
"protein_id": "NP_996743.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "TACC2",
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"exon_count": 20,
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"gene_symbol": "TACC2",
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"protein_id": "XP_047280422.1",
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"aa_start": 479,
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"cds_start": 1435,
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"feature": null
}
],
"gene_symbol": "TACC2",
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"dbsnp": "rs2295879",
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"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": 0.08895254135131836,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.747,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000369005.6",
"gene_symbol": "TACC2",
"hgnc_id": 11523,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8194G>C",
"hgvs_p": "p.Ala2732Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}