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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: 12-70330306-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=70330306&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 70330306,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014515.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "NM_014515.7",
"protein_id": "NP_055330.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229195.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014515.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "ENST00000229195.8",
"protein_id": "ENSP00000229195.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014515.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229195.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "ENST00000418359.7",
"protein_id": "ENSP00000412091.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418359.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Pro127Ser",
"transcript": "ENST00000548159.5",
"protein_id": "ENSP00000449659.1",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 530,
"cds_start": 379,
"cds_end": null,
"cds_length": 1594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548159.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "NM_001199302.2",
"protein_id": "NP_001186231.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199302.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "NM_001199303.2",
"protein_id": "NP_001186232.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199303.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "NM_001414651.1",
"protein_id": "NP_001401580.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414651.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "ENST00000868453.1",
"protein_id": "ENSP00000538512.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868453.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "ENST00000868454.1",
"protein_id": "ENSP00000538513.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868454.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "ENST00000868455.1",
"protein_id": "ENSP00000538514.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868455.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "ENST00000932301.1",
"protein_id": "ENSP00000602360.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932301.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "ENST00000953274.1",
"protein_id": "ENSP00000623333.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 540,
"cds_start": 406,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953274.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "ENST00000551043.5",
"protein_id": "ENSP00000449260.1",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 539,
"cds_start": 406,
"cds_end": null,
"cds_length": 1621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551043.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "ENST00000932303.1",
"protein_id": "ENSP00000602362.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 539,
"cds_start": 406,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932303.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser",
"transcript": "NM_001414652.1",
"protein_id": "NP_001401581.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 537,
"cds_start": 406,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414652.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Pro127Ser",
"transcript": "NM_001414653.1",
"protein_id": "NP_001401582.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 531,
"cds_start": 379,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414653.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Pro127Ser",
"transcript": "NM_001414654.1",
"protein_id": "NP_001401583.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 531,
"cds_start": 379,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414654.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Pro127Ser",
"transcript": "NM_001414655.1",
"protein_id": "NP_001401584.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 531,
"cds_start": 379,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414655.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "NM_001414656.1",
"protein_id": "NP_001401585.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 526,
"cds_start": 364,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414656.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Pro116Ser",
"transcript": "NM_001414657.1",
"protein_id": "NP_001401586.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 520,
"cds_start": 346,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414657.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Pro116Ser",
"transcript": "NM_001414658.1",
"protein_id": "NP_001401587.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 520,
"cds_start": 346,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414658.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Pro116Ser",
"transcript": "NM_001414659.1",
"protein_id": "NP_001401588.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 520,
"cds_start": 346,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414659.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
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{
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{
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{
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{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "CNOT2",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09806150197982788,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.0506,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.267,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": [
{
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"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014515.7",
"gene_symbol": "CNOT2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Pro136Ser"
}
],
"clinvar_disease": " and variable skeletal anomalies, dysmorphic facies,Intellectual developmental disorder with nasal speech",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}