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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: 17-68043944-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68043944&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68043944,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002266.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "NM_002266.4",
"protein_id": "NP_002257.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330459.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002266.4"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000330459.8",
"protein_id": "ENSP00000332455.3",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002266.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330459.8"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000537025.6",
"protein_id": "ENSP00000438483.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537025.6"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "NM_001320611.3",
"protein_id": "NP_001307540.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320611.3"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000579754.2",
"protein_id": "ENSP00000462331.2",
"transcript_support_level": 2,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579754.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000584026.6",
"protein_id": "ENSP00000463602.2",
"transcript_support_level": 4,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584026.6"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000676594.1",
"protein_id": "ENSP00000503445.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676594.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000677086.1",
"protein_id": "ENSP00000504655.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677086.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000679078.1",
"protein_id": "ENSP00000504685.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679078.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000913637.1",
"protein_id": "ENSP00000583696.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913637.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000913639.1",
"protein_id": "ENSP00000583698.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913639.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000913636.1",
"protein_id": "ENSP00000583695.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 523,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913636.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000676857.1",
"protein_id": "ENSP00000503884.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 511,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676857.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "ENST00000913635.1",
"protein_id": "ENSP00000583694.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 511,
"cds_start": 983,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913635.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.983A>C",
"hgvs_p": "p.Asn328Thr",
"transcript": "ENST00000964619.1",
"protein_id": "ENSP00000634678.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 511,
"cds_start": 983,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964619.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Asn322Thr",
"transcript": "ENST00000913641.1",
"protein_id": "ENSP00000583700.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 505,
"cds_start": 965,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913641.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000678388.1",
"protein_id": "ENSP00000503111.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 504,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678388.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000913640.1",
"protein_id": "ENSP00000583699.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 479,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913640.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.1037A>C",
"hgvs_p": "p.Asn346Thr",
"transcript": "ENST00000913638.1",
"protein_id": "ENSP00000583697.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 468,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913638.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.773A>C",
"hgvs_p": "p.Asn258Thr",
"transcript": "ENST00000913634.1",
"protein_id": "ENSP00000583693.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 441,
"cds_start": 773,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913634.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "c.931-20A>C",
"hgvs_p": null,
"transcript": "ENST00000913633.1",
"protein_id": "ENSP00000583692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNA2",
"gene_hgnc_id": 6395,
"hgvs_c": "n.1201A>C",
"hgvs_p": null,
"transcript": "ENST00000583392.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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],
"gene_symbol": "KPNA2",
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"dbsnp": "rs782251646",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 78,
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"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2776409983634949,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.313,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.271,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.094,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002266.4",
"gene_symbol": "KPNA2",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Asn346Thr"
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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
}