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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: 2-178450346-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178450346&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178450346,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003690.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.131T>G",
"hgvs_p": "p.Met44Arg",
"transcript": "NM_003690.5",
"protein_id": "NP_003681.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 313,
"cds_start": 131,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325748.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003690.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.131T>G",
"hgvs_p": "p.Met44Arg",
"transcript": "ENST00000325748.9",
"protein_id": "ENSP00000318176.4",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 313,
"cds_start": 131,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003690.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325748.9"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.98T>G",
"hgvs_p": "p.Met33Arg",
"transcript": "ENST00000432031.6",
"protein_id": "ENSP00000393883.2",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 302,
"cds_start": 98,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432031.6"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.56T>G",
"hgvs_p": "p.Met19Arg",
"transcript": "ENST00000487082.5",
"protein_id": "ENSP00000430604.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 288,
"cds_start": 56,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487082.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.98T>G",
"hgvs_p": "p.Met33Arg",
"transcript": "NM_001139517.1",
"protein_id": "NP_001132989.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 302,
"cds_start": 98,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139517.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.131T>G",
"hgvs_p": "p.Met44Arg",
"transcript": "ENST00000914393.1",
"protein_id": "ENSP00000584452.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 296,
"cds_start": 131,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914393.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.56T>G",
"hgvs_p": "p.Met19Arg",
"transcript": "NM_001139518.1",
"protein_id": "NP_001132990.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 288,
"cds_start": 56,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139518.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.131T>G",
"hgvs_p": "p.Met44Arg",
"transcript": "ENST00000967043.1",
"protein_id": "ENSP00000637102.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 223,
"cds_start": 131,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967043.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.131T>G",
"hgvs_p": "p.Met44Arg",
"transcript": "XM_047446138.1",
"protein_id": "XP_047302094.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 191,
"cds_start": 131,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446138.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.-319T>G",
"hgvs_p": null,
"transcript": "NM_001316362.2",
"protein_id": "NP_001303291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316362.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.-174T>G",
"hgvs_p": null,
"transcript": "XM_011512063.3",
"protein_id": "XP_011510365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512063.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.65+620T>G",
"hgvs_p": null,
"transcript": "ENST00000677981.1",
"protein_id": "ENSP00000503536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677981.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.-70+620T>G",
"hgvs_p": null,
"transcript": "ENST00000677689.1",
"protein_id": "ENSP00000502919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677689.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.111+20T>G",
"hgvs_p": null,
"transcript": "ENST00000914392.1",
"protein_id": "ENSP00000584451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.-264+620T>G",
"hgvs_p": null,
"transcript": "ENST00000678775.1",
"protein_id": "ENSP00000504030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678775.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.-105+620T>G",
"hgvs_p": null,
"transcript": "ENST00000678845.1",
"protein_id": "ENSP00000503011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678845.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.131T>G",
"hgvs_p": null,
"transcript": "ENST00000424699.5",
"protein_id": "ENSP00000408029.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424699.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.98T>G",
"hgvs_p": null,
"transcript": "ENST00000448279.2",
"protein_id": "ENSP00000388455.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448279.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.98T>G",
"hgvs_p": null,
"transcript": "ENST00000457633.2",
"protein_id": "ENSP00000408668.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000457633.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.234T>G",
"hgvs_p": null,
"transcript": "ENST00000460433.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460433.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.274T>G",
"hgvs_p": null,
"transcript": "ENST00000463882.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.214T>G",
"hgvs_p": null,
"transcript": "ENST00000466165.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000466165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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}
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}