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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: 19-54149592-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54149592&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54149592,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "NM_001440653.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "NM_014516.4",
"protein_id": "NP_055331.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 753,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221232.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014516.4"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "ENST00000221232.11",
"protein_id": "ENSP00000221232.5",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 753,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014516.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221232.11"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "ENST00000358389.7",
"protein_id": "ENSP00000351159.4",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 753,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358389.7"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1443dupT",
"hgvs_p": "p.Gly482fs",
"transcript": "NM_001440653.1",
"protein_id": "NP_001427582.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 771,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440653.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "NM_001440654.1",
"protein_id": "NP_001427583.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 770,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440654.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1443dupT",
"hgvs_p": "p.Gly482fs",
"transcript": "NM_001440655.1",
"protein_id": "NP_001427584.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 757,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440655.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "NM_001440656.1",
"protein_id": "NP_001427585.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 756,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440656.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1443dupT",
"hgvs_p": "p.Gly482fs",
"transcript": "NM_001440661.1",
"protein_id": "NP_001427590.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 754,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440661.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1443dupT",
"hgvs_p": "p.Gly482fs",
"transcript": "NM_001440662.1",
"protein_id": "NP_001427591.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 754,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440662.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1443dupT",
"hgvs_p": "p.Gly482fs",
"transcript": "ENST00000896564.1",
"protein_id": "ENSP00000566623.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 754,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896564.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1443dupT",
"hgvs_p": "p.Gly482fs",
"transcript": "ENST00000933501.1",
"protein_id": "ENSP00000603560.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 754,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933501.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1443dupT",
"hgvs_p": "p.Gly482fs",
"transcript": "ENST00000933506.1",
"protein_id": "ENSP00000603565.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 754,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933506.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "ENST00000896565.1",
"protein_id": "ENSP00000566624.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 753,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896565.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "ENST00000933502.1",
"protein_id": "ENSP00000603561.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 753,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933502.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "ENST00000933503.1",
"protein_id": "ENSP00000603562.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 753,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933503.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "ENST00000933504.1",
"protein_id": "ENSP00000603563.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 753,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933504.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "ENST00000933507.1",
"protein_id": "ENSP00000603566.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 753,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933507.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "ENST00000933509.1",
"protein_id": "ENSP00000603568.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 753,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933509.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1440dupT",
"hgvs_p": "p.Gly481fs",
"transcript": "ENST00000933512.1",
"protein_id": "ENSP00000603571.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 753,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933512.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1434dupT",
"hgvs_p": "p.Gly479fs",
"transcript": "ENST00000933508.1",
"protein_id": "ENSP00000603567.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 751,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933508.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1413dupT",
"hgvs_p": "p.Gly472fs",
"transcript": "ENST00000933510.1",
"protein_id": "ENSP00000603569.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 744,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933510.1"
},
{
"aa_ref": "G",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT3",
"gene_hgnc_id": 7879,
"hgvs_c": "c.1443dupT",
"hgvs_p": "p.Gly482fs",
"transcript": "NM_001440657.1",
"protein_id": "NP_001427586.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 736,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_score": -0.144,
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"acmg_by_gene": [
{
"score": 12,
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"criteria": [
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"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": 4,
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"PP5_Moderate"
],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}