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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: 17-59866638-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59866638&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59866638,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016261.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349His",
"transcript": "NM_016261.4",
"protein_id": "NP_057345.2",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 453,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325752.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016261.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349His",
"transcript": "ENST00000325752.8",
"protein_id": "ENSP00000320797.3",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 453,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016261.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325752.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349His",
"transcript": "ENST00000592426.5",
"protein_id": "ENSP00000468518.1",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 453,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592426.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Arg294His",
"transcript": "ENST00000340993.10",
"protein_id": "ENSP00000342399.5",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 398,
"cds_start": 881,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340993.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.770-2791G>A",
"hgvs_p": null,
"transcript": "ENST00000376094.8",
"protein_id": "ENSP00000365262.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376094.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "n.*599G>A",
"hgvs_p": null,
"transcript": "ENST00000591548.5",
"protein_id": "ENSP00000467915.1",
"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": "ENST00000591548.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "n.*599G>A",
"hgvs_p": null,
"transcript": "ENST00000591548.5",
"protein_id": "ENSP00000467915.1",
"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": "ENST00000591548.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000934483.1",
"protein_id": "ENSP00000604542.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 452,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934483.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Arg294His",
"transcript": "NM_001193609.2",
"protein_id": "NP_001180538.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 398,
"cds_start": 881,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193609.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Arg294His",
"transcript": "ENST00000893313.1",
"protein_id": "ENSP00000563372.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 398,
"cds_start": 881,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893313.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349His",
"transcript": "NM_001193610.2",
"protein_id": "NP_001180539.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 396,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193610.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349His",
"transcript": "ENST00000394239.7",
"protein_id": "ENSP00000377785.3",
"transcript_support_level": 2,
"aa_start": 349,
"aa_end": null,
"aa_length": 396,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394239.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "NM_001193612.2",
"protein_id": "NP_001180541.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 279,
"cds_start": 524,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193612.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.449G>A",
"hgvs_p": "p.Arg150His",
"transcript": "ENST00000934485.1",
"protein_id": "ENSP00000604544.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 254,
"cds_start": 449,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934485.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133His",
"transcript": "NM_001193613.2",
"protein_id": "NP_001180542.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 237,
"cds_start": 398,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193613.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133His",
"transcript": "ENST00000539018.5",
"protein_id": "ENSP00000441757.1",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 237,
"cds_start": 398,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539018.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95His",
"transcript": "ENST00000346141.10",
"protein_id": "ENSP00000342561.5",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 199,
"cds_start": 284,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346141.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349His",
"transcript": "XM_017024716.3",
"protein_id": "XP_016880205.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 375,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024716.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Arg294His",
"transcript": "XM_047436200.1",
"protein_id": "XP_047292156.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 320,
"cds_start": 881,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436200.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "XM_047436201.1",
"protein_id": "XP_047292157.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 296,
"cds_start": 575,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436201.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.935-2791G>A",
"hgvs_p": null,
"transcript": "ENST00000893312.1",
"protein_id": "ENSP00000563371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893312.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TUBD1",
"gene_hgnc_id": 16811,
"hgvs_c": "c.770-2791G>A",
"hgvs_p": null,
"transcript": "NM_001193611.2",
"protein_id": "NP_001180540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193611.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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{
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],
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{
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],
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],
"gene_symbol": "TUBD1",
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"dbsnp": "rs572341288",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
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"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8643625974655151,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.755,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4338,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.122,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016261.4",
"gene_symbol": "TUBD1",
"hgnc_id": 16811,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349His"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}