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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: 16-189998-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=189998&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 189998,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_201412.3",
"consequences": [
{
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315Gln",
"transcript": "NM_201412.3",
"protein_id": "NP_958815.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 371,
"cds_start": 944,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293872.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201412.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315Gln",
"transcript": "ENST00000293872.13",
"protein_id": "ENSP00000293872.8",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 371,
"cds_start": 944,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201412.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293872.13"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315Gln",
"transcript": "ENST00000337351.8",
"protein_id": "ENSP00000337507.4",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 325,
"cds_start": 944,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.*2107G>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": null,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.2263G>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": null,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "n.*2107G>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426094.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305Gln",
"transcript": "ENST00000862883.1",
"protein_id": "ENSP00000532942.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 361,
"cds_start": 914,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862883.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282Gln",
"transcript": "ENST00000862884.1",
"protein_id": "ENSP00000532943.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862884.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "ENST00000920890.1",
"protein_id": "ENSP00000590949.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 334,
"cds_start": 833,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920890.1"
},
{
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "ENST00000920887.1",
"protein_id": "ENSP00000590946.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 328,
"cds_start": 815,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920887.1"
},
{
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315Gln",
"transcript": "NM_001320226.2",
"protein_id": "NP_001307155.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 325,
"cds_start": 944,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320226.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315Gln",
"transcript": "NM_018032.5",
"protein_id": "NP_060502.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 325,
"cds_start": 944,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018032.5"
},
{
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315Gln",
"transcript": "ENST00000397783.5",
"protein_id": "ENSP00000380885.1",
"transcript_support_level": 2,
"aa_start": 315,
"aa_end": null,
"aa_length": 325,
"cds_start": 944,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397783.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "ENST00000920888.1",
"protein_id": "ENSP00000590947.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 323,
"cds_start": 800,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920888.1"
},
{
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Gln",
"transcript": "NM_001330420.2",
"protein_id": "NP_001317349.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 272,
"cds_start": 785,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330420.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Gln",
"transcript": "ENST00000397780.5",
"protein_id": "ENSP00000380882.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 272,
"cds_start": 785,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397780.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.512G>A",
"hgvs_p": "p.Arg171Gln",
"transcript": "ENST00000920891.1",
"protein_id": "ENSP00000590950.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 227,
"cds_start": 512,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920891.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln",
"transcript": "ENST00000429378.5",
"protein_id": "ENSP00000413033.1",
"transcript_support_level": 3,
"aa_start": 114,
"aa_end": null,
"aa_length": 170,
"cds_start": 341,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429378.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49Gln",
"transcript": "ENST00000442701.1",
"protein_id": "ENSP00000407781.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 59,
"cds_start": 146,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442701.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282Gln",
"transcript": "XM_011522561.3",
"protein_id": "XP_011520863.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522561.3"
},
{
"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": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Gln",
"transcript": "XM_005255427.4",
"protein_id": "XP_005255484.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 318,
"cds_start": 785,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255427.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L",
"gene_hgnc_id": 6723,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229Gln",
"transcript": "XM_017023438.3",
"protein_id": "XP_016878927.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 285,
"cds_start": 686,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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{
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{
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{
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{
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],
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{
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],
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],
"gene_symbol": "LUC7L",
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"dbsnp": "rs146490197",
"frequency_reference_population": 0.000009915938,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000821109,
"gnomad_genomes_af": 0.000026294,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17156943678855896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.1065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.979,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_201412.3",
"gene_symbol": "LUC7L",
"hgnc_id": 6723,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315Gln"
}
],
"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
}