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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: 17-45169540-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45169540&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45169540,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001303436.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "NM_001303441.2",
"protein_id": "NP_001290370.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": "ENST00000589230.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303441.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000589230.6",
"protein_id": "ENSP00000466200.2",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": "NM_001303441.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589230.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000591576.5",
"protein_id": "ENSP00000465727.1",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591576.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000592695.1",
"protein_id": "ENSP00000467517.1",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592695.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.658G>C",
"hgvs_p": "p.Glu220Gln",
"transcript": "NM_001303436.1",
"protein_id": "NP_001290365.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 308,
"cds_start": 658,
"cds_end": null,
"cds_length": 927,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303436.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "NM_001303437.1",
"protein_id": "NP_001290366.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303437.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "NM_001303438.1",
"protein_id": "NP_001290367.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303438.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "NM_001303439.1",
"protein_id": "NP_001290368.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303439.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "NM_001303440.2",
"protein_id": "NP_001290369.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303440.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "NM_001303442.2",
"protein_id": "NP_001290371.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303442.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "NM_001303443.2",
"protein_id": "NP_001290372.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303443.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "NM_001303444.2",
"protein_id": "NP_001290373.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303444.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "NM_144608.2",
"protein_id": "NP_653209.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144608.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000307275.7",
"protein_id": "ENSP00000302276.2",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307275.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000585340.2",
"protein_id": "ENSP00000468251.2",
"transcript_support_level": 3,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585340.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000586681.6",
"protein_id": "ENSP00000465086.2",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586681.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000591070.6",
"protein_id": "ENSP00000464807.2",
"transcript_support_level": 3,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591070.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000593138.6",
"protein_id": "ENSP00000468773.2",
"transcript_support_level": 3,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593138.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000894989.1",
"protein_id": "ENSP00000565048.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894989.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000894990.1",
"protein_id": "ENSP00000565049.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894990.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000894991.1",
"protein_id": "ENSP00000565050.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
"cds_length": 861,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894991.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXIM2",
"gene_hgnc_id": 28591,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Glu198Gln",
"transcript": "ENST00000894992.1",
"protein_id": "ENSP00000565051.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 286,
"cds_start": 592,
"cds_end": null,
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],
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"computational_score_selected": 0.12839844822883606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.322,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.634,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001303436.1",
"gene_symbol": "HEXIM2",
"hgnc_id": 28591,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.658G>C",
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{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000837919.1",
"gene_symbol": "HEXIM2-AS2",
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"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.753C>G",
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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
}