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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: 3-98788134-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=98788134&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 98788134,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001271145.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "NM_001323368.2",
"protein_id": "NP_001310297.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": "ENST00000483910.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323368.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000483910.6",
"protein_id": "ENSP00000417376.1",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": "NM_001323368.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483910.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000394162.5",
"protein_id": "ENSP00000377717.1",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394162.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000613264.5",
"protein_id": "ENSP00000480884.2",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613264.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "n.*327A>G",
"hgvs_p": null,
"transcript": "ENST00000469105.5",
"protein_id": "ENSP00000419690.1",
"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": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469105.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "n.*327A>G",
"hgvs_p": null,
"transcript": "ENST00000469105.5",
"protein_id": "ENSP00000419690.1",
"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": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469105.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.His230Arg",
"transcript": "NM_001271145.2",
"protein_id": "NP_001258074.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 384,
"cds_start": 689,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271145.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "NM_001271146.2",
"protein_id": "NP_001258075.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271146.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "NM_001323352.2",
"protein_id": "NP_001310281.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 3541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323352.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "NM_001323365.2",
"protein_id": "NP_001310294.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323365.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "NM_001323367.4",
"protein_id": "NP_001310296.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323367.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "NM_006100.4",
"protein_id": "NP_006091.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006100.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000265261.11",
"protein_id": "ENSP00000265261.7",
"transcript_support_level": 2,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265261.11"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000881500.1",
"protein_id": "ENSP00000551559.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881500.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000881501.1",
"protein_id": "ENSP00000551560.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881501.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000881502.1",
"protein_id": "ENSP00000551561.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881502.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000881507.1",
"protein_id": "ENSP00000551566.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881507.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000881508.1",
"protein_id": "ENSP00000551567.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881508.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000881509.1",
"protein_id": "ENSP00000551568.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881509.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000881510.1",
"protein_id": "ENSP00000551569.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881510.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000881511.1",
"protein_id": "ENSP00000551570.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881511.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.His177Arg",
"transcript": "ENST00000881512.1",
"protein_id": "ENSP00000551571.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 331,
"cds_start": 530,
"cds_end": null,
"cds_length": 996,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 2780,
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{
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],
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],
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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,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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{
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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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
}