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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: 2-238068129-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=238068129&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 238068129,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_016510.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Lys89Lys",
"transcript": "NM_016510.7",
"protein_id": "NP_057594.5",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 445,
"cds_start": 267,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": "ENST00000254663.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016510.7"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Lys89Lys",
"transcript": "ENST00000254663.12",
"protein_id": "ENSP00000254663.7",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 445,
"cds_start": 267,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": "NM_016510.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254663.12"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Lys89Lys",
"transcript": "ENST00000409736.6",
"protein_id": "ENSP00000387162.2",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 317,
"cds_start": 267,
"cds_end": null,
"cds_length": 954,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409736.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F-SCLY",
"gene_hgnc_id": 48339,
"hgvs_c": "n.*440A>G",
"hgvs_p": null,
"transcript": "ENST00000449191.1",
"protein_id": "ENSP00000456827.1",
"transcript_support_level": 3,
"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": 951,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "n.394A>G",
"hgvs_p": null,
"transcript": "ENST00000480357.5",
"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": 5668,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480357.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F-SCLY",
"gene_hgnc_id": 48339,
"hgvs_c": "n.*440A>G",
"hgvs_p": null,
"transcript": "ENST00000449191.1",
"protein_id": "ENSP00000456827.1",
"transcript_support_level": 3,
"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": 951,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449191.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.291A>G",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000651534.1",
"protein_id": "ENSP00000499199.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 453,
"cds_start": 291,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651534.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Lys89Lys",
"transcript": "ENST00000904191.1",
"protein_id": "ENSP00000574250.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 428,
"cds_start": 267,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904191.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Lys89Lys",
"transcript": "ENST00000904189.1",
"protein_id": "ENSP00000574248.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 417,
"cds_start": 267,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904189.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Lys89Lys",
"transcript": "ENST00000904188.1",
"protein_id": "ENSP00000574247.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 397,
"cds_start": 267,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904188.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Lys89Lys",
"transcript": "ENST00000904190.1",
"protein_id": "ENSP00000574249.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 342,
"cds_start": 267,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904190.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Lys89Lys",
"transcript": "ENST00000940678.1",
"protein_id": "ENSP00000610737.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 314,
"cds_start": 267,
"cds_end": null,
"cds_length": 945,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940678.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Lys89Lys",
"transcript": "ENST00000412508.6",
"protein_id": "ENSP00000416344.2",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 193,
"cds_start": 267,
"cds_end": null,
"cds_length": 584,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412508.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Lys77Lys",
"transcript": "ENST00000416757.1",
"protein_id": "ENSP00000404473.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 151,
"cds_start": 231,
"cds_end": null,
"cds_length": 456,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416757.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "c.202+3660A>G",
"hgvs_p": null,
"transcript": "ENST00000413463.6",
"protein_id": "ENSP00000414165.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413463.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "n.*116A>G",
"hgvs_p": null,
"transcript": "ENST00000443532.5",
"protein_id": "ENSP00000406710.1",
"transcript_support_level": 5,
"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": 968,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443532.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "n.*41A>G",
"hgvs_p": null,
"transcript": "ENST00000446202.5",
"protein_id": "ENSP00000391361.1",
"transcript_support_level": 4,
"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": 548,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446202.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F-SCLY",
"gene_hgnc_id": 48339,
"hgvs_c": "n.*417A>G",
"hgvs_p": null,
"transcript": "ENST00000449891.5",
"protein_id": "ENSP00000457658.1",
"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,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449891.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "n.271A>G",
"hgvs_p": null,
"transcript": "ENST00000480859.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 506,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000480859.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "n.175A>G",
"hgvs_p": null,
"transcript": "ENST00000482031.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCLY",
"gene_hgnc_id": 18161,
"hgvs_c": "n.356A>G",
"hgvs_p": null,
"transcript": "ENST00000497256.5",
"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,
"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000497256.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F-SCLY",
"gene_hgnc_id": 48339,
"hgvs_c": "n.843A>G",
"hgvs_p": null,
"transcript": "NR_037904.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037904.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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{
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],
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],
"gene_symbol": "SCLY",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.007000000216066837,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.007,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.425,
"phylop100way_prediction": "Benign",
"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_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_016510.7",
"gene_symbol": "SCLY",
"hgnc_id": 18161,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Lys89Lys"
},
{
"score": -4,
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000449191.1",
"gene_symbol": "UBE2F-SCLY",
"hgnc_id": 48339,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*440A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}