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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: 2-203394792-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=203394792&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 203394792,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001375670.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "NM_001375670.1",
"protein_id": "NP_001362599.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 542,
"cds_start": 671,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261018.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375670.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "ENST00000261018.12",
"protein_id": "ENSP00000261018.9",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 542,
"cds_start": 671,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375670.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261018.12"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "ENST00000295851.10",
"protein_id": "ENSP00000295851.4",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 513,
"cds_start": 671,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295851.10"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "ENST00000417864.5",
"protein_id": "ENSP00000414703.1",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 485,
"cds_start": 671,
"cds_end": null,
"cds_length": 1459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417864.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"transcript": "ENST00000261017.9",
"protein_id": "ENSP00000261017.5",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 475,
"cds_start": 653,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261017.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "n.*435C>T",
"hgvs_p": null,
"transcript": "ENST00000441061.5",
"protein_id": "ENSP00000410509.2",
"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": "ENST00000441061.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "n.*435C>T",
"hgvs_p": null,
"transcript": "ENST00000441061.5",
"protein_id": "ENSP00000410509.2",
"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": "ENST00000441061.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "NM_001375671.1",
"protein_id": "NP_001362600.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 541,
"cds_start": 671,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375671.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "NM_001375672.1",
"protein_id": "NP_001362601.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 541,
"cds_start": 671,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375672.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "ENST00000955886.1",
"protein_id": "ENSP00000625945.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 541,
"cds_start": 671,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955886.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "NM_001375673.1",
"protein_id": "NP_001362602.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 540,
"cds_start": 671,
"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_001375673.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "NM_001375674.1",
"protein_id": "NP_001362603.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 540,
"cds_start": 671,
"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_001375674.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "ENST00000955880.1",
"protein_id": "ENSP00000625939.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 540,
"cds_start": 671,
"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": "ENST00000955880.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"transcript": "NM_001375675.1",
"protein_id": "NP_001362604.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 536,
"cds_start": 653,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375675.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"transcript": "ENST00000880583.1",
"protein_id": "ENSP00000550642.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 536,
"cds_start": 653,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880583.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"transcript": "ENST00000880599.1",
"protein_id": "ENSP00000550658.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 535,
"cds_start": 653,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880599.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"transcript": "ENST00000918156.1",
"protein_id": "ENSP00000588215.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 534,
"cds_start": 653,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918156.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"transcript": "ENST00000880597.1",
"protein_id": "ENSP00000550656.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 533,
"cds_start": 653,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880597.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "NM_001375676.1",
"protein_id": "NP_001362605.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 532,
"cds_start": 671,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375676.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "NM_001282925.3",
"protein_id": "NP_001269854.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 513,
"cds_start": 671,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282925.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "NM_001375677.1",
"protein_id": "NP_001362606.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 512,
"cds_start": 671,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375677.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"transcript": "ENST00000955877.1",
"protein_id": "ENSP00000625936.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 512,
"cds_start": 671,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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],
"gene_symbol": "ABI2",
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"dbsnp": "rs956628628",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
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"gnomad_genomes_homalt": 0,
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"computational_score_selected": 0.2224140465259552,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.183,
"revel_prediction": "Benign",
"alphamissense_score": 0.0699,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.761,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001375670.1",
"gene_symbol": "ABI2",
"hgnc_id": 24011,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000457812.5",
"gene_symbol": "RAPH1",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.*289G>A",
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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
}