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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: 1-43597774-ATG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43597774&ref=ATG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43597774,
"ref": "ATG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_002840.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "NM_002840.5",
"protein_id": "NP_002831.2",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1907,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359947.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002840.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000359947.9",
"protein_id": "ENSP00000353030.4",
"transcript_support_level": 1,
"aa_start": 616,
"aa_end": null,
"aa_length": 1907,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002840.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359947.9"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000438120.5",
"protein_id": "ENSP00000398822.1",
"transcript_support_level": 1,
"aa_start": 616,
"aa_end": null,
"aa_length": 1898,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438120.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.815_816delTG",
"hgvs_p": "p.Val272fs",
"transcript": "ENST00000429895.5",
"protein_id": "ENSP00000408952.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 1552,
"cds_start": 815,
"cds_end": null,
"cds_length": 4659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429895.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000915784.1",
"protein_id": "ENSP00000585843.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1944,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915784.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000915781.1",
"protein_id": "ENSP00000585840.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1933,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915781.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1877_1878delTG",
"hgvs_p": "p.Val626fs",
"transcript": "ENST00000850944.1",
"protein_id": "ENSP00000521029.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1917,
"cds_start": 1877,
"cds_end": null,
"cds_length": 5754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850944.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1865_1866delTG",
"hgvs_p": "p.Val622fs",
"transcript": "ENST00000850943.1",
"protein_id": "ENSP00000521028.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 1913,
"cds_start": 1865,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850943.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000883004.1",
"protein_id": "ENSP00000553063.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1909,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883004.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000883000.1",
"protein_id": "ENSP00000553059.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1907,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883000.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000915782.1",
"protein_id": "ENSP00000585841.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1906,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915782.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1859_1860delTG",
"hgvs_p": "p.Val620fs",
"transcript": "ENST00000954135.1",
"protein_id": "ENSP00000624194.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 1902,
"cds_start": 1859,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954135.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "NM_130440.4",
"protein_id": "NP_569707.2",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1898,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130440.4"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000882999.1",
"protein_id": "ENSP00000553058.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1898,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882999.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000883001.1",
"protein_id": "ENSP00000553060.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1898,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883001.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000883006.1",
"protein_id": "ENSP00000553065.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1898,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883006.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000883007.1",
"protein_id": "ENSP00000553066.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1898,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883007.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000915777.1",
"protein_id": "ENSP00000585836.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1898,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915777.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000915779.1",
"protein_id": "ENSP00000585838.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1898,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915779.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000915780.1",
"protein_id": "ENSP00000585839.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1898,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915780.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000915785.1",
"protein_id": "ENSP00000585844.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1897,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915785.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.1847_1848delTG",
"hgvs_p": "p.Val616fs",
"transcript": "ENST00000954134.1",
"protein_id": "ENSP00000624193.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 1893,
"cds_start": 1847,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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