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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: 2-27336273-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27336273&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27336273,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001521.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001035521.3",
"protein_id": "NP_001030598.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": "ENST00000264720.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035521.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "ENST00000264720.8",
"protein_id": "ENSP00000264720.3",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": "NM_001035521.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264720.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "ENST00000359541.6",
"protein_id": "ENSP00000352536.2",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359541.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "ENST00000957129.1",
"protein_id": "ENSP00000627188.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 940,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957129.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001318909.4",
"protein_id": "NP_001305838.2",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318909.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001388380.3",
"protein_id": "NP_001375309.2",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388380.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001394503.1",
"protein_id": "NP_001381432.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394503.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001394504.1",
"protein_id": "NP_001381433.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394504.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001394505.1",
"protein_id": "NP_001381434.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394505.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001394506.1",
"protein_id": "NP_001381435.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394506.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001394507.1",
"protein_id": "NP_001381436.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394507.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001394508.1",
"protein_id": "NP_001381437.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394508.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001394509.1",
"protein_id": "NP_001381438.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394509.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001394510.1",
"protein_id": "NP_001381439.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394510.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001394511.1",
"protein_id": "NP_001381440.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394511.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "NM_001521.4",
"protein_id": "NP_001512.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001521.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "ENST00000872596.1",
"protein_id": "ENSP00000542655.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872596.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "ENST00000872597.1",
"protein_id": "ENSP00000542656.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
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"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872597.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "ENST00000872598.1",
"protein_id": "ENSP00000542657.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872598.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "ENST00000872599.1",
"protein_id": "ENSP00000542658.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872599.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "ENST00000872601.1",
"protein_id": "ENSP00000542660.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872601.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.His427Arg",
"transcript": "ENST00000872602.1",
"protein_id": "ENSP00000542661.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 911,
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"frequency_reference_population": 6.8406e-7,
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"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8406e-7,
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"gnomad_exomes_ac": 1,
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"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.034,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001521.4",
"gene_symbol": "GTF3C2",
"hgnc_id": 4665,
"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 3,
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"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "GTF3C2-AS1",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "n.329T>C",
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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
}