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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: 4-108621975-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=108621975&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 108621975,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000995.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "NM_001319236.2",
"protein_id": "NP_001306165.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 50,
"cdna_end": null,
"cdna_length": 546,
"mane_select": "ENST00000394667.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319236.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000394667.8",
"protein_id": "ENSP00000378162.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 50,
"cdna_end": null,
"cdna_length": 546,
"mane_select": "NM_001319236.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394667.8"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000394668.3",
"protein_id": "ENSP00000378163.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394668.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000926079.1",
"protein_id": "ENSP00000596138.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 146,
"cds_start": 16,
"cds_end": null,
"cds_length": 441,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926079.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000926076.1",
"protein_id": "ENSP00000596135.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 128,
"cds_start": 16,
"cds_end": null,
"cds_length": 387,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926076.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "NM_000995.5",
"protein_id": "NP_000986.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 50,
"cdna_end": null,
"cdna_length": 893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000995.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "NM_001319232.2",
"protein_id": "NP_001306161.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319232.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "NM_001319234.1",
"protein_id": "NP_001306163.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319234.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "NM_001319235.2",
"protein_id": "NP_001306164.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319235.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "NM_033625.4",
"protein_id": "NP_296374.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 1005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033625.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000394665.5",
"protein_id": "ENSP00000378160.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394665.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000502534.5",
"protein_id": "ENSP00000423983.1",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502534.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000506397.5",
"protein_id": "ENSP00000423316.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506397.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000853717.1",
"protein_id": "ENSP00000523776.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853717.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000853718.1",
"protein_id": "ENSP00000523777.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853718.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000853719.1",
"protein_id": "ENSP00000523778.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853719.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000853720.1",
"protein_id": "ENSP00000523779.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853720.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000853721.1",
"protein_id": "ENSP00000523780.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 133,
"cdna_end": null,
"cdna_length": 492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853721.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000926072.1",
"protein_id": "ENSP00000596131.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926072.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000926073.1",
"protein_id": "ENSP00000596132.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926073.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000926074.1",
"protein_id": "ENSP00000596133.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926074.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL34",
"gene_hgnc_id": 10340,
"hgvs_c": "c.16A>C",
"hgvs_p": "p.Thr6Pro",
"transcript": "ENST00000926075.1",
"protein_id": "ENSP00000596134.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 117,
"cds_start": 16,
"cds_end": null,
"cds_length": 354,
"cdna_start": 50,
"cdna_end": null,
"cdna_length": 884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926075.1"
},
{
"aa_ref": "T",
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"canonical": false,
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{
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"dbsnp": "rs1725797806",
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"hom_count_reference_population": null,
"allele_count_reference_population": null,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.711,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.89,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 1,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_000995.5",
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"effects": [
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],
"inheritance_mode": "AD",
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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
}