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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: 16-193003-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=193003&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 193003,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_201412.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "NM_201412.3",
"protein_id": "NP_958815.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 371,
"cds_start": 700,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": "ENST00000293872.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201412.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "ENST00000293872.13",
"protein_id": "ENSP00000293872.8",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 371,
"cds_start": 700,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": "NM_201412.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293872.13"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "ENST00000337351.8",
"protein_id": "ENSP00000337507.4",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 325,
"cds_start": 700,
"cds_end": null,
"cds_length": 978,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337351.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.*1863G>A",
"hgvs_p": null,
"transcript": "ENST00000426094.5",
"protein_id": "ENSP00000390953.1",
"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": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426094.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.1878G>A",
"hgvs_p": null,
"transcript": "ENST00000490762.5",
"protein_id": null,
"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": 2643,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490762.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.*1863G>A",
"hgvs_p": null,
"transcript": "ENST00000426094.5",
"protein_id": "ENSP00000390953.1",
"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": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426094.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "ENST00000862883.1",
"protein_id": "ENSP00000532942.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 361,
"cds_start": 700,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862883.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "ENST00000862884.1",
"protein_id": "ENSP00000532943.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 338,
"cds_start": 601,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862884.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Glu197Lys",
"transcript": "ENST00000920890.1",
"protein_id": "ENSP00000590949.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 334,
"cds_start": 589,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920890.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "ENST00000920887.1",
"protein_id": "ENSP00000590946.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 328,
"cds_start": 601,
"cds_end": null,
"cds_length": 987,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920887.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "NM_001320226.2",
"protein_id": "NP_001307155.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 325,
"cds_start": 700,
"cds_end": null,
"cds_length": 978,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320226.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "NM_018032.5",
"protein_id": "NP_060502.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 325,
"cds_start": 700,
"cds_end": null,
"cds_length": 978,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018032.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "ENST00000397783.5",
"protein_id": "ENSP00000380885.1",
"transcript_support_level": 2,
"aa_start": 234,
"aa_end": null,
"aa_length": 325,
"cds_start": 700,
"cds_end": null,
"cds_length": 978,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397783.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Glu186Lys",
"transcript": "ENST00000920888.1",
"protein_id": "ENSP00000590947.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 323,
"cds_start": 556,
"cds_end": null,
"cds_length": 972,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920888.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "ENST00000920889.1",
"protein_id": "ENSP00000590948.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 315,
"cds_start": 700,
"cds_end": null,
"cds_length": 948,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920889.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "ENST00000949702.1",
"protein_id": "ENSP00000619761.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 305,
"cds_start": 700,
"cds_end": null,
"cds_length": 918,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949702.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "ENST00000949701.1",
"protein_id": "ENSP00000619760.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 282,
"cds_start": 601,
"cds_end": null,
"cds_length": 849,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949701.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "NM_001330420.2",
"protein_id": "NP_001317349.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 272,
"cds_start": 541,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330420.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000397780.5",
"protein_id": "ENSP00000380882.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 272,
"cds_start": 541,
"cds_end": null,
"cds_length": 819,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397780.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Glu90Lys",
"transcript": "ENST00000920891.1",
"protein_id": "ENSP00000590950.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 227,
"cds_start": 268,
"cds_end": null,
"cds_length": 684,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920891.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Glu148Lys",
"transcript": "ENST00000430864.5",
"protein_id": "ENSP00000406695.1",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 181,
"cds_start": 442,
"cds_end": null,
"cds_length": 548,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430864.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Glu33Lys",
"transcript": "ENST00000429378.5",
"protein_id": "ENSP00000413033.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 170,
"cds_start": 97,
"cds_end": null,
"cds_length": 513,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
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],
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"allele_count_reference_population": 1,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_201412.3",
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"effects": [
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"inheritance_mode": "AR",
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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
}