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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: 1-154945926-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154945926&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154945926,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020524.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "NM_020524.4",
"protein_id": "NP_065385.2",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 731,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368463.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020524.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000368463.8",
"protein_id": "ENSP00000357448.3",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 731,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020524.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368463.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1856G>A",
"hgvs_p": "p.Arg619Gln",
"transcript": "ENST00000905132.1",
"protein_id": "ENSP00000575191.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 767,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905132.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1856G>A",
"hgvs_p": "p.Arg619Gln",
"transcript": "ENST00000964409.1",
"protein_id": "ENSP00000634470.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 767,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964409.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1829G>A",
"hgvs_p": "p.Arg610Gln",
"transcript": "ENST00000905134.1",
"protein_id": "ENSP00000575193.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 758,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905134.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000905131.1",
"protein_id": "ENSP00000575190.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 737,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905131.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000905135.1",
"protein_id": "ENSP00000575194.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 731,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905135.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000905136.1",
"protein_id": "ENSP00000575195.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 731,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905136.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000920040.1",
"protein_id": "ENSP00000590099.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 731,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920040.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000964405.1",
"protein_id": "ENSP00000634464.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 731,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964405.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000964408.1",
"protein_id": "ENSP00000634467.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 731,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964408.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581Gln",
"transcript": "ENST00000964406.1",
"protein_id": "ENSP00000634465.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 729,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964406.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Arg572Gln",
"transcript": "ENST00000964407.1",
"protein_id": "ENSP00000634466.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 720,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964407.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554Gln",
"transcript": "NM_001317734.2",
"protein_id": "NP_001304663.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 702,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317734.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554Gln",
"transcript": "ENST00000368465.5",
"protein_id": "ENSP00000357450.1",
"transcript_support_level": 2,
"aa_start": 554,
"aa_end": null,
"aa_length": 702,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368465.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1649G>A",
"hgvs_p": "p.Arg550Gln",
"transcript": "ENST00000905133.1",
"protein_id": "ENSP00000575192.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 698,
"cds_start": 1649,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905133.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428Gln",
"transcript": "NM_001317735.2",
"protein_id": "NP_001304664.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 576,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317735.2"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PBXIP1",
"gene_hgnc_id": 21199,
"hgvs_c": "c.871-188G>A",
"hgvs_p": null,
"transcript": "ENST00000905130.1",
"protein_id": "ENSP00000575189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905130.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310191",
"gene_hgnc_id": null,
"hgvs_c": "n.423+171C>T",
"hgvs_p": null,
"transcript": "ENST00000848032.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000848032.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310191",
"gene_hgnc_id": null,
"hgvs_c": "n.400+171C>T",
"hgvs_p": null,
"transcript": "ENST00000848033.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000848033.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310191",
"gene_hgnc_id": null,
"hgvs_c": "n.382+171C>T",
"hgvs_p": null,
"transcript": "ENST00000848034.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000848034.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310191",
"gene_hgnc_id": null,
"hgvs_c": "n.367+171C>T",
"hgvs_p": null,
"transcript": "ENST00000848035.1",
"protein_id": null,
"transcript_support_level": null,
"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,
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],
"gene_symbol": "PBXIP1",
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"dbsnp": "rs199769816",
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.022,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_020524.4",
"gene_symbol": "PBXIP1",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg583Gln"
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{
"score": -4,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000848032.1",
"gene_symbol": "ENSG00000310191",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.423+171C>T",
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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
}