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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: 19-49490270-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49490270&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49490270,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012423.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "NM_012423.4",
"protein_id": "NP_036555.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 203,
"cds_start": 127,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000391857.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012423.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000391857.9",
"protein_id": "ENSP00000375730.4",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 203,
"cds_start": 127,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012423.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391857.9"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "n.117A>G",
"hgvs_p": null,
"transcript": "ENST00000624069.3",
"protein_id": "ENSP00000485546.1",
"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": "ENST00000624069.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Ile41Val",
"transcript": "ENST00000467825.2",
"protein_id": "ENSP00000470037.2",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 209,
"cds_start": 121,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467825.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000961389.1",
"protein_id": "ENSP00000631448.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 201,
"cds_start": 127,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961389.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000915795.1",
"protein_id": "ENSP00000585854.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 199,
"cds_start": 127,
"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": "ENST00000915795.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000857998.1",
"protein_id": "ENSP00000528057.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 198,
"cds_start": 127,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857998.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000858000.1",
"protein_id": "ENSP00000528059.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 192,
"cds_start": 127,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858000.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000679106.1",
"protein_id": "ENSP00000504662.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 188,
"cds_start": 127,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679106.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000915798.1",
"protein_id": "ENSP00000585857.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 183,
"cds_start": 127,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915798.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000915797.1",
"protein_id": "ENSP00000585856.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 181,
"cds_start": 127,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915797.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000915800.1",
"protein_id": "ENSP00000585859.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 173,
"cds_start": 127,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915800.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000915794.1",
"protein_id": "ENSP00000585853.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 169,
"cds_start": 127,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915794.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000857999.1",
"protein_id": "ENSP00000528058.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 162,
"cds_start": 127,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857999.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000915799.1",
"protein_id": "ENSP00000585858.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 159,
"cds_start": 127,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915799.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "ENST00000915796.1",
"protein_id": "ENSP00000585855.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 158,
"cds_start": 127,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915796.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.117A>G",
"hgvs_p": "p.Thr39Thr",
"transcript": "ENST00000678510.1",
"protein_id": "ENSP00000502969.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 198,
"cds_start": 117,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678510.1"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.-29-205A>G",
"hgvs_p": null,
"transcript": "NM_001270491.2",
"protein_id": "NP_001257420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270491.2"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.-29-205A>G",
"hgvs_p": null,
"transcript": "ENST00000621674.4",
"protein_id": "ENSP00000477755.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621674.4"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "c.37+399A>G",
"hgvs_p": null,
"transcript": "ENST00000961390.1",
"protein_id": "ENSP00000631449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961390.1"
},
{
"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": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "n.149A>G",
"hgvs_p": null,
"transcript": "ENST00000472481.5",
"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": "retained_intron",
"feature": "ENST00000472481.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13A",
"gene_hgnc_id": 10304,
"hgvs_c": "n.421A>G",
"hgvs_p": null,
"transcript": "ENST00000476268.6",
"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": "retained_intron",
"feature": "ENST00000476268.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.49371767044067383,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.339,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4459,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_012423.4",
"gene_symbol": "RPL13A",
"hgnc_id": 10304,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val"
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{
"score": 0,
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NR_000021.1",
"gene_symbol": "SNORD32A",
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"effects": [
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],
"inheritance_mode": "",
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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
}