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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: 7-77913744-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=77913744&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 77913744,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000422959.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.776+3335C>A",
"hgvs_p": null,
"transcript": "ENST00000248550.7",
"protein_id": "ENSP00000248550.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.674+3335C>A",
"hgvs_p": null,
"transcript": "ENST00000422959.8",
"protein_id": "ENSP00000403042.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": -4,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.662+3335C>A",
"hgvs_p": null,
"transcript": "ENST00000307305.12",
"protein_id": "ENSP00000307699.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 747,
"cds_start": -4,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.662+3335C>A",
"hgvs_p": null,
"transcript": "ENST00000275575.11",
"protein_id": "ENSP00000275575.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.674+3335C>A",
"hgvs_p": null,
"transcript": "ENST00000450574.5",
"protein_id": "ENSP00000387355.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": -4,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.662+3335C>A",
"hgvs_p": null,
"transcript": "ENST00000415251.6",
"protein_id": "ENSP00000408035.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "n.697+3335C>A",
"hgvs_p": null,
"transcript": "ENST00000454592.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.776+3335C>A",
"hgvs_p": null,
"transcript": "NM_001366089.1",
"protein_id": "NP_001353018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.776+3335C>A",
"hgvs_p": null,
"transcript": "ENST00000416283.6",
"protein_id": "ENSP00000400958.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
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"cds_length": 2358,
"cdna_start": null,
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"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 7,
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"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.674+3335C>A",
"hgvs_p": null,
"transcript": "NM_001127357.2",
"protein_id": "NP_001120829.1",
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"aa_start": null,
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"cdna_start": 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": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 8,
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"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.674+3335C>A",
"hgvs_p": null,
"transcript": "NM_001395272.1",
"protein_id": "NP_001382201.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "PHTF2",
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],
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"gene_symbol": "PHTF2",
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"hgvs_c": "c.662+3335C>A",
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],
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],
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},
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],
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"gene_symbol": "PHTF2",
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"transcript": "NM_001366081.1",
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},
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],
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"gene_symbol": "PHTF2",
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"hgvs_c": "c.662+3335C>A",
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"transcript": "ENST00000424760.5",
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},
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],
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"gene_symbol": "PHTF2",
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"hgvs_c": "c.662+3335C>A",
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"transcript": "NM_001366085.2",
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}