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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: 3-138273111-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138273111&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 138273111,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363941.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Cys",
"transcript": "NM_001363941.2",
"protein_id": "NP_001350870.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 673,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000469044.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363941.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Cys",
"transcript": "ENST00000469044.6",
"protein_id": "ENSP00000419413.1",
"transcript_support_level": 5,
"aa_start": 542,
"aa_end": null,
"aa_length": 673,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363941.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469044.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Arg528Cys",
"transcript": "ENST00000481646.5",
"protein_id": "ENSP00000420333.1",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 659,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481646.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NME9",
"gene_hgnc_id": 21343,
"hgvs_c": "n.*66-10525G>A",
"hgvs_p": null,
"transcript": "ENST00000492993.5",
"protein_id": "ENSP00000419355.1",
"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": "ENST00000492993.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Arg528Cys",
"transcript": "NM_015396.6",
"protein_id": "NP_056211.2",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 659,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015396.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Arg521Cys",
"transcript": "ENST00000878616.1",
"protein_id": "ENSP00000548675.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 652,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878616.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515Cys",
"transcript": "ENST00000941953.1",
"protein_id": "ENSP00000612012.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 646,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941953.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1537C>T",
"hgvs_p": "p.Arg513Cys",
"transcript": "ENST00000941952.1",
"protein_id": "ENSP00000612011.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 644,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941952.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1531C>T",
"hgvs_p": "p.Arg511Cys",
"transcript": "NM_001267041.2",
"protein_id": "NP_001253970.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 642,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267041.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1531C>T",
"hgvs_p": "p.Arg511Cys",
"transcript": "ENST00000538260.5",
"protein_id": "ENSP00000441592.1",
"transcript_support_level": 2,
"aa_start": 511,
"aa_end": null,
"aa_length": 642,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538260.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Cys",
"transcript": "ENST00000878617.1",
"protein_id": "ENSP00000548676.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 641,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878617.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Cys",
"transcript": "ENST00000926886.1",
"protein_id": "ENSP00000596945.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 641,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926886.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Arg500Cys",
"transcript": "NM_001363942.1",
"protein_id": "NP_001350871.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 631,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363942.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Arg500Cys",
"transcript": "ENST00000491704.5",
"protein_id": "ENSP00000417304.1",
"transcript_support_level": 5,
"aa_start": 500,
"aa_end": null,
"aa_length": 631,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491704.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Cys",
"transcript": "NM_001267042.3",
"protein_id": "NP_001253971.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 606,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267042.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Cys",
"transcript": "ENST00000461822.5",
"protein_id": "ENSP00000420706.1",
"transcript_support_level": 2,
"aa_start": 475,
"aa_end": null,
"aa_length": 606,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461822.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Cys",
"transcript": "NM_001282342.2",
"protein_id": "NP_001269271.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 600,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282342.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Cys",
"transcript": "ENST00000485396.5",
"protein_id": "ENSP00000417049.1",
"transcript_support_level": 2,
"aa_start": 469,
"aa_end": null,
"aa_length": 600,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485396.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Arg412Cys",
"transcript": "ENST00000941954.1",
"protein_id": "ENSP00000612013.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 543,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941954.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Arg11Cys",
"transcript": "ENST00000464181.2",
"protein_id": "ENSP00000417457.2",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 89,
"cds_start": 31,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464181.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Arg528Cys",
"transcript": "XM_006713565.3",
"protein_id": "XP_006713628.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 659,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713565.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Arg500Cys",
"transcript": "XM_006713566.5",
"protein_id": "XP_006713629.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 631,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
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"frequency_reference_population": 6.8970655e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.89707e-7,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29598039388656616,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.406,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363941.2",
"gene_symbol": "ARMC8",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
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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
}