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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: 2-39755923-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=39755923&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 39755923,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025264.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Gly310Glu",
"transcript": "NM_025264.5",
"protein_id": "NP_079540.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 503,
"cds_start": 929,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000505747.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025264.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Gly310Glu",
"transcript": "ENST00000505747.6",
"protein_id": "ENSP00000423933.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 503,
"cds_start": 929,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025264.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505747.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.*138G>A",
"hgvs_p": null,
"transcript": "ENST00000378727.8",
"protein_id": "ENSP00000368001.4",
"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": "ENST00000378727.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.1890G>A",
"hgvs_p": null,
"transcript": "ENST00000460072.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000460072.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.*138G>A",
"hgvs_p": null,
"transcript": "ENST00000378727.8",
"protein_id": "ENSP00000368001.4",
"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": "ENST00000378727.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Gly309Glu",
"transcript": "ENST00000933810.1",
"protein_id": "ENSP00000603869.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 502,
"cds_start": 926,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933810.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Gly294Glu",
"transcript": "ENST00000933808.1",
"protein_id": "ENSP00000603867.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 487,
"cds_start": 881,
"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": "ENST00000933808.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Gly293Glu",
"transcript": "ENST00000933809.1",
"protein_id": "ENSP00000603868.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 878,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933809.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Gly284Glu",
"transcript": "ENST00000933811.1",
"protein_id": "ENSP00000603870.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 477,
"cds_start": 851,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933811.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Gly310Glu",
"transcript": "NM_001321468.1",
"protein_id": "NP_001308397.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 415,
"cds_start": 929,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321468.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Gly217Glu",
"transcript": "NM_001321469.1",
"protein_id": "NP_001308398.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 410,
"cds_start": 650,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321469.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Gly201Glu",
"transcript": "NM_001321470.1",
"protein_id": "NP_001308399.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 394,
"cds_start": 602,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321470.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Gly170Glu",
"transcript": "ENST00000953485.1",
"protein_id": "ENSP00000623544.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 363,
"cds_start": 509,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953485.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Gly310Glu",
"transcript": "NM_001321474.1",
"protein_id": "NP_001308403.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 344,
"cds_start": 929,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321474.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Gly217Glu",
"transcript": "NM_001321475.1",
"protein_id": "NP_001308404.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 322,
"cds_start": 650,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321475.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Gly128Glu",
"transcript": "ENST00000933812.1",
"protein_id": "ENSP00000603871.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 321,
"cds_start": 383,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933812.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Gly102Glu",
"transcript": "ENST00000933813.1",
"protein_id": "ENSP00000603872.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 295,
"cds_start": 305,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933813.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Glu",
"transcript": "NM_001321477.1",
"protein_id": "NP_001308406.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 269,
"cds_start": 227,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321477.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Glu",
"transcript": "NM_001321478.1",
"protein_id": "NP_001308407.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 269,
"cds_start": 227,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321478.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Glu",
"transcript": "NM_001321479.1",
"protein_id": "NP_001308408.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 269,
"cds_start": 227,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321479.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Glu",
"transcript": "NM_001321480.1",
"protein_id": "NP_001308409.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 269,
"cds_start": 227,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321480.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Glu",
"transcript": "NM_001321481.1",
"protein_id": "NP_001308410.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 269,
"cds_start": 227,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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],
"gene_symbol": "THUMPD2",
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.897,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9529,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.645,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 6,
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"acmg_by_gene": [
{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_025264.5",
"gene_symbol": "THUMPD2",
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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
}