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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: 22-30018071-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30018071&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30018071,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_021090.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "NM_021090.4",
"protein_id": "NP_066576.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401950.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021090.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000401950.7",
"protein_id": "ENSP00000384651.3",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021090.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401950.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000351488.7",
"protein_id": "ENSP00000307271.6",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351488.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Trp",
"transcript": "ENST00000956491.1",
"protein_id": "ENSP00000626550.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 1232,
"cds_start": 1921,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956491.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000908090.1",
"protein_id": "ENSP00000578149.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1207,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908090.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000908091.1",
"protein_id": "ENSP00000578150.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1207,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908091.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000956489.1",
"protein_id": "ENSP00000626548.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956489.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Trp",
"transcript": "ENST00000956488.1",
"protein_id": "ENSP00000626547.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 1204,
"cds_start": 1921,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956488.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000908094.1",
"protein_id": "ENSP00000578153.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908094.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000908095.1",
"protein_id": "ENSP00000578154.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908095.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000908096.1",
"protein_id": "ENSP00000578155.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908096.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000908097.1",
"protein_id": "ENSP00000578156.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908097.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "NM_153050.3",
"protein_id": "NP_694690.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153050.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000333027.7",
"protein_id": "ENSP00000331649.3",
"transcript_support_level": 5,
"aa_start": 607,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333027.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000406629.1",
"protein_id": "ENSP00000384077.1",
"transcript_support_level": 5,
"aa_start": 607,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406629.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "NM_153051.3",
"protein_id": "NP_694691.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153051.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000940445.1",
"protein_id": "ENSP00000610504.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940445.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1705C>T",
"hgvs_p": "p.Arg569Trp",
"transcript": "ENST00000908093.1",
"protein_id": "ENSP00000578152.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1160,
"cds_start": 1705,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908093.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1795C>T",
"hgvs_p": "p.Arg599Trp",
"transcript": "ENST00000908092.1",
"protein_id": "ENSP00000578151.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1153,
"cds_start": 1795,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908092.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "ENST00000956490.1",
"protein_id": "ENSP00000626549.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1152,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956490.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Trp",
"transcript": "ENST00000323630.9",
"protein_id": "ENSP00000318070.5",
"transcript_support_level": 5,
"aa_start": 471,
"aa_end": null,
"aa_length": 1062,
"cds_start": 1411,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323630.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"PP3"
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"verdict": "Uncertain_significance",
"transcript": "NM_021090.4",
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"effects": [
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{
"score": 3,
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"verdict": "Uncertain_significance",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": " and ophthalmoplegia, proximal,Myopathy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Myopathy, proximal, and ophthalmoplegia|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}