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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: 2-178620456-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178620456&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178620456,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 248,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46065G>C",
"hgvs_p": "p.Lys15355Asn",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 15355,
"aa_end": null,
"aa_length": 35991,
"cds_start": 46065,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 46290,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 248,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46065G>C",
"hgvs_p": "p.Lys15355Asn",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 15355,
"aa_end": null,
"aa_length": 35991,
"cds_start": 46065,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 46290,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 246,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.45909G>C",
"hgvs_p": "p.Lys15303Asn",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 15303,
"aa_end": null,
"aa_length": 35939,
"cds_start": 45909,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 46134,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 246,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.45789G>C",
"hgvs_p": "p.Lys15263Asn",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 15263,
"aa_end": null,
"aa_length": 35899,
"cds_start": 45789,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 46014,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 241,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.45507G>C",
"hgvs_p": "p.Lys15169Asn",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 15169,
"aa_end": null,
"aa_length": 35805,
"cds_start": 45507,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 45732,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 250,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46065G>C",
"hgvs_p": "p.Lys15355Asn",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 15355,
"aa_end": null,
"aa_length": 35991,
"cds_start": 46065,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 46554,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 247,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.45981G>C",
"hgvs_p": "p.Lys15327Asn",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 15327,
"aa_end": null,
"aa_length": 35963,
"cds_start": 45981,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 46206,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 245,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.45651G>C",
"hgvs_p": "p.Lys15217Asn",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 15217,
"aa_end": null,
"aa_length": 35853,
"cds_start": 45651,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 45876,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 198,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.41142G>C",
"hgvs_p": "p.Lys13714Asn",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 13714,
"aa_end": null,
"aa_length": 34350,
"cds_start": 41142,
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"cds_length": 103053,
"cdna_start": 41367,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 198,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.41142G>C",
"hgvs_p": "p.Lys13714Asn",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 13714,
"aa_end": null,
"aa_length": 34350,
"cds_start": 41142,
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"cds_length": 103053,
"cdna_start": 41367,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 197,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.38361G>C",
"hgvs_p": "p.Lys12787Asn",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 12787,
"aa_end": null,
"aa_length": 33423,
"cds_start": 38361,
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},
{
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"consequences": [
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],
"exon_rank": 197,
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"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.38361G>C",
"hgvs_p": "p.Lys12787Asn",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.19446G>C",
"hgvs_p": "p.Lys6482Asn",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
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},
{
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],
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"exon_count": 191,
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"gene_symbol": "TTN",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.19245G>C",
"hgvs_p": "p.Lys6415Asn",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
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},
{
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],
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.18870G>C",
"hgvs_p": "p.Lys6290Asn",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
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},
{
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"consequences": [
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],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.18870G>C",
"hgvs_p": "p.Lys6290Asn",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
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},
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.44958G>C",
"hgvs_p": "p.Lys14986Asn",
"transcript": "XM_017004819.1",
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},
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.41070G>C",
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"transcript": "XM_047445660.1",
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},
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.40734G>C",
"hgvs_p": "p.Lys13578Asn",
"transcript": "XM_047445661.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 195,
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"exon_count": 310,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.40503G>C",
"hgvs_p": "p.Lys13501Asn",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
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},
{
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"consequences": [
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],
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"pathogenic_score": 0,
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"inheritance_mode": "AD,AR",
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{
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"verdict": "Benign",
"transcript": "ENST00000653807.1",
"gene_symbol": "TTN-AS1",
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"inheritance_mode": "",
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],
"clinvar_disease": " 9, Dominant, myofibrillar, recessive, with early respiratory failure,Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiomyopathy,Dilated Cardiomyopathy,Dilated cardiomyopathy 1G,Early-onset myopathy with fatal cardiomyopathy,Hypertrophic cardiomyopathy,Limb-girdle muscular dystrophy,Myopathy,TTN-related disorder,Tibial muscular dystrophy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:8 LB:2 B:2",
"phenotype_combined": "not specified|Hypertrophic cardiomyopathy|Dilated Cardiomyopathy, Dominant|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Limb-girdle muscular dystrophy, recessive|Early-onset myopathy with fatal cardiomyopathy|not provided|Cardiomyopathy|Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J|TTN-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}