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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: 8-42176143-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42176143&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42176143,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000930.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Ser513Ser",
"transcript": "NM_000930.5",
"protein_id": "NP_000921.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 562,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220809.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000930.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Ser513Ser",
"transcript": "ENST00000220809.9",
"protein_id": "ENSP00000220809.4",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 562,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000930.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220809.9"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ser467Ser",
"transcript": "ENST00000352041.7",
"protein_id": "ENSP00000270188.6",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 516,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352041.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1602G>A",
"hgvs_p": "p.Ser534Ser",
"transcript": "ENST00000679300.1",
"protein_id": "ENSP00000503050.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 583,
"cds_start": 1602,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679300.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1602G>A",
"hgvs_p": "p.Ser534Ser",
"transcript": "ENST00000884025.1",
"protein_id": "ENSP00000554084.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 583,
"cds_start": 1602,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884025.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Ser513Ser",
"transcript": "ENST00000429089.6",
"protein_id": "ENSP00000392045.2",
"transcript_support_level": 5,
"aa_start": 513,
"aa_end": null,
"aa_length": 562,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429089.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Ser513Ser",
"transcript": "ENST00000679151.1",
"protein_id": "ENSP00000504311.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 562,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679151.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Ser513Ser",
"transcript": "ENST00000884022.1",
"protein_id": "ENSP00000554081.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 562,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884022.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Ser513Ser",
"transcript": "ENST00000884023.1",
"protein_id": "ENSP00000554082.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 562,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884023.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Ser513Ser",
"transcript": "ENST00000915840.1",
"protein_id": "ENSP00000585899.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 562,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915840.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Ser513Ser",
"transcript": "ENST00000944405.1",
"protein_id": "ENSP00000614464.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 562,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944405.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ser467Ser",
"transcript": "NM_033011.4",
"protein_id": "NP_127509.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 516,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033011.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Ser450Ser",
"transcript": "ENST00000519510.5",
"protein_id": "ENSP00000428886.1",
"transcript_support_level": 5,
"aa_start": 450,
"aa_end": null,
"aa_length": 499,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519510.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Ser425Ser",
"transcript": "ENST00000944404.1",
"protein_id": "ENSP00000614463.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 474,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944404.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Ser424Ser",
"transcript": "NM_001319189.2",
"protein_id": "NP_001306118.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 473,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319189.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Ser424Ser",
"transcript": "ENST00000524009.5",
"protein_id": "ENSP00000429401.1",
"transcript_support_level": 2,
"aa_start": 424,
"aa_end": null,
"aa_length": 473,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524009.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1161G>A",
"hgvs_p": "p.Ser387Ser",
"transcript": "ENST00000429710.6",
"protein_id": "ENSP00000407861.2",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 436,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429710.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1023G>A",
"hgvs_p": "p.Ser341Ser",
"transcript": "ENST00000884024.1",
"protein_id": "ENSP00000554083.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 390,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "n.2477G>A",
"hgvs_p": null,
"transcript": "ENST00000677722.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "n.*376G>A",
"hgvs_p": null,
"transcript": "ENST00000678083.1",
"protein_id": "ENSP00000504824.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "n.*898G>A",
"hgvs_p": null,
"transcript": "ENST00000678676.1",
"protein_id": "ENSP00000502858.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678676.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "n.*376G>A",
"hgvs_p": null,
"transcript": "ENST00000678083.1",
"protein_id": "ENSP00000504824.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "n.*898G>A",
"hgvs_p": null,
"transcript": "ENST00000678676.1",
"protein_id": "ENSP00000502858.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678676.1"
}
],
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"dbsnp": "rs13306824",
"frequency_reference_population": 0.0012089305,
"hom_count_reference_population": 31,
"allele_count_reference_population": 1950,
"gnomad_exomes_af": 0.00118979,
"gnomad_genomes_af": 0.00139265,
"gnomad_exomes_ac": 1738,
"gnomad_genomes_ac": 212,
"gnomad_exomes_homalt": 27,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.188,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000930.5",
"gene_symbol": "PLAT",
"hgnc_id": 9051,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Ser513Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}