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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: 15-47759883-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=47759883&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 47759883,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000536845.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "NM_001358351.3",
"protein_id": "NP_001345280.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1073,
"cds_start": 85,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 5907,
"mane_select": "ENST00000536845.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000536845.7",
"protein_id": "ENSP00000446152.3",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 1073,
"cds_start": 85,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 5907,
"mane_select": "NM_001358351.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000316364.9",
"protein_id": "ENSP00000324857.5",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 1073,
"cds_start": 85,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 6099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000354744.8",
"protein_id": "ENSP00000346786.4",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 1017,
"cds_start": 85,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 5931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000358066.8",
"protein_id": "ENSP00000350770.4",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 1011,
"cds_start": 85,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000558014.5",
"protein_id": "ENSP00000452815.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 1011,
"cds_start": 85,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000389428.7",
"protein_id": "ENSP00000374079.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 998,
"cds_start": 85,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 5874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000389425.7",
"protein_id": "ENSP00000374076.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 476,
"cds_start": 85,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "NM_001358352.2",
"protein_id": "NP_001345281.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1086,
"cds_start": 85,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "NM_153618.2",
"protein_id": "NP_705871.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1073,
"cds_start": 85,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 6494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "NM_153617.2",
"protein_id": "NP_705870.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1017,
"cds_start": 85,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 6326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "NM_001198999.2",
"protein_id": "NP_001185928.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1011,
"cds_start": 85,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 6040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "NM_020858.2",
"protein_id": "NP_065909.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1011,
"cds_start": 85,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 6308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "NM_153616.2",
"protein_id": "NP_705869.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 998,
"cds_start": 85,
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"cdna_start": 921,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "NM_153619.1",
"protein_id": "NP_705872.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 597,
"cds_start": 85,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000355997.7",
"protein_id": "ENSP00000348276.3",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
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"cds_start": 85,
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"cdna_start": 524,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000558816.5",
"protein_id": "ENSP00000453661.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 597,
"cds_start": 85,
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"cds_length": 1794,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "NM_024966.3",
"protein_id": "NP_079242.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 476,
"cds_start": 85,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000559196.1",
"protein_id": "ENSP00000453755.1",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 218,
"cds_start": 85,
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"cdna_start": 161,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000561133.5",
"protein_id": "ENSP00000453530.1",
"transcript_support_level": 4,
"aa_start": 29,
"aa_end": null,
"aa_length": 147,
"cds_start": 85,
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"cdna_start": 229,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "n.430C>T",
"hgvs_p": null,
"transcript": "ENST00000561106.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.*19C>T",
"hgvs_p": null,
"transcript": "ENST00000559184.5",
"protein_id": "ENSP00000453097.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 21,
"cds_start": -4,
"cds_end": null,
"cds_length": 66,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"hgvs_c": "c.*81C>T",
"hgvs_p": null,
"transcript": "ENST00000560636.5",
"protein_id": "ENSP00000453420.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 0,
"cds_start": -4,
"cds_end": null,
"cds_length": 4,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEMA6D",
"gene_hgnc_id": 16770,
"dbsnp": "rs2081968075",
"frequency_reference_population": 0.0000065715976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6566054224967957,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.346,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6323,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.306,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000536845.7",
"gene_symbol": "SEMA6D",
"hgnc_id": 16770,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser"
}
],
"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
}