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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: 11-64197519-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64197519&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64197519,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001282652.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Asn276Asp",
"transcript": "NM_006819.3",
"protein_id": "NP_006810.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 543,
"cds_start": 826,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305218.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006819.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Asn276Asp",
"transcript": "ENST00000305218.9",
"protein_id": "ENSP00000305958.5",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 543,
"cds_start": 826,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006819.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305218.9"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Asn323Asp",
"transcript": "ENST00000358794.9",
"protein_id": "ENSP00000351646.5",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 590,
"cds_start": 967,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358794.9"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Asn323Asp",
"transcript": "NM_001282652.2",
"protein_id": "NP_001269581.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 590,
"cds_start": 967,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282652.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Asn276Asp",
"transcript": "ENST00000939711.1",
"protein_id": "ENSP00000609770.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 551,
"cds_start": 826,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939711.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Asn276Asp",
"transcript": "ENST00000902525.1",
"protein_id": "ENSP00000572584.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 550,
"cds_start": 826,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902525.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Asn276Asp",
"transcript": "ENST00000939712.1",
"protein_id": "ENSP00000609771.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 550,
"cds_start": 826,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939712.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Asn276Asp",
"transcript": "ENST00000902521.1",
"protein_id": "ENSP00000572580.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 547,
"cds_start": 826,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902521.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Asn276Asp",
"transcript": "ENST00000939708.1",
"protein_id": "ENSP00000609767.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 542,
"cds_start": 826,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939708.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Asn254Asp",
"transcript": "ENST00000902523.1",
"protein_id": "ENSP00000572582.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 521,
"cds_start": 760,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902523.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.754A>G",
"hgvs_p": "p.Asn252Asp",
"transcript": "NM_001282653.2",
"protein_id": "NP_001269582.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 519,
"cds_start": 754,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282653.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.754A>G",
"hgvs_p": "p.Asn252Asp",
"transcript": "ENST00000538945.5",
"protein_id": "ENSP00000445957.1",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 519,
"cds_start": 754,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538945.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Asn214Asp",
"transcript": "ENST00000939709.1",
"protein_id": "ENSP00000609768.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 481,
"cds_start": 640,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939709.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Asn276Asp",
"transcript": "ENST00000902522.1",
"protein_id": "ENSP00000572581.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 469,
"cds_start": 826,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.672+1706A>G",
"hgvs_p": null,
"transcript": "ENST00000902524.1",
"protein_id": "ENSP00000572583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": null,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.729+192A>G",
"hgvs_p": null,
"transcript": "ENST00000939710.1",
"protein_id": "ENSP00000609769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": null,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.362-2425A>G",
"hgvs_p": null,
"transcript": "ENST00000902526.1",
"protein_id": "ENSP00000572585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902526.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "c.220-2421A>G",
"hgvs_p": null,
"transcript": "ENST00000939707.1",
"protein_id": "ENSP00000609766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939707.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "n.335A>G",
"hgvs_p": null,
"transcript": "ENST00000537479.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000537479.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "n.235A>G",
"hgvs_p": null,
"transcript": "ENST00000538497.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000538497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "n.365A>G",
"hgvs_p": null,
"transcript": "ENST00000544739.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000544739.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"hgvs_c": "n.361+3189A>G",
"hgvs_p": null,
"transcript": "ENST00000536973.5",
"protein_id": "ENSP00000441036.1",
"transcript_support_level": 5,
"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": "ENST00000536973.5"
}
],
"gene_symbol": "STIP1",
"gene_hgnc_id": 11387,
"dbsnp": "rs868320260",
"frequency_reference_population": 0.0000068404506,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684045,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05099809169769287,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.0718,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.953,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001282652.2",
"gene_symbol": "STIP1",
"hgnc_id": 11387,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Asn323Asp"
}
],
"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
}