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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: 16-14240269-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=14240269&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 14240269,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001308142.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "NM_001308142.2",
"protein_id": "NP_001295071.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1099,
"cds_start": 864,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 8804,
"mane_select": "ENST00000571589.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "ENST00000571589.6",
"protein_id": "ENSP00000459626.2",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 1099,
"cds_start": 864,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 8804,
"mane_select": "NM_001308142.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "ENST00000574045.5",
"protein_id": "ENSP00000459205.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 1049,
"cds_start": 864,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.711C>A",
"hgvs_p": "p.His237Gln",
"transcript": "ENST00000573051.1",
"protein_id": "ENSP00000460589.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 378,
"cds_start": 711,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.831C>A",
"hgvs_p": "p.His277Gln",
"transcript": "NM_001365411.2",
"protein_id": "NP_001352340.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 1088,
"cds_start": 831,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 8825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "NM_001365412.2",
"protein_id": "NP_001352341.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1053,
"cds_start": 864,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 8828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "NM_014048.4",
"protein_id": "NP_054767.3",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1049,
"cds_start": 864,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 8666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "ENST00000318282.9",
"protein_id": "ENSP00000339086.4",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 1049,
"cds_start": 864,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 8608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.651C>A",
"hgvs_p": "p.His217Gln",
"transcript": "NM_001365413.2",
"protein_id": "NP_001352342.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 1028,
"cds_start": 651,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 8536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.651C>A",
"hgvs_p": "p.His217Gln",
"transcript": "NM_001365414.2",
"protein_id": "NP_001352343.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 978,
"cds_start": 651,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 8386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.831C>A",
"hgvs_p": "p.His277Gln",
"transcript": "NM_001365415.2",
"protein_id": "NP_001352344.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 369,
"cds_start": 831,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.831C>A",
"hgvs_p": "p.His277Gln",
"transcript": "ENST00000572567.5",
"protein_id": "ENSP00000459879.1",
"transcript_support_level": 2,
"aa_start": 277,
"aa_end": null,
"aa_length": 369,
"cds_start": 831,
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"cds_length": 1110,
"cdna_start": 1029,
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"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.651C>A",
"hgvs_p": "p.His217Gln",
"transcript": "NM_001365416.2",
"protein_id": "NP_001352345.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 309,
"cds_start": 651,
"cds_end": null,
"cds_length": 930,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "XM_005255452.4",
"protein_id": "XP_005255509.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "XM_006720909.5",
"protein_id": "XP_006720972.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1099,
"cds_start": 864,
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"cdna_start": 1242,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "XM_011522568.3",
"protein_id": "XP_011520870.1",
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"cdna_start": 1080,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "XM_017023501.3",
"protein_id": "XP_016878990.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1099,
"cds_start": 864,
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"cdna_start": 1024,
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"cdna_length": 8795,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "XM_017023502.1",
"protein_id": "XP_016878991.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
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"cds_start": 864,
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"cdna_start": 1067,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "XM_047434390.1",
"protein_id": "XP_047290346.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "XM_047434391.1",
"protein_id": "XP_047290347.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "XM_047434392.1",
"protein_id": "XP_047290348.1",
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"cds_start": 864,
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"cdna_start": 1186,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.864C>A",
"hgvs_p": "p.His288Gln",
"transcript": "XM_047434393.1",
"protein_id": "XP_047290349.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1099,
"cds_start": 864,
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"cdna_start": 1293,
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"cdna_length": 9064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
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