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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: 4-1938448-TAG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1938448&ref=TAG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1938448,
"ref": "TAG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000508803.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "NM_001042424.3",
"protein_id": "NP_001035889.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1365,
"cds_start": 1678,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": "ENST00000508803.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "ENST00000508803.6",
"protein_id": "ENSP00000423972.1",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 1365,
"cds_start": 1678,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": "NM_001042424.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "ENST00000382892.6",
"protein_id": "ENSP00000372348.2",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 1365,
"cds_start": 1678,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 7706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "ENST00000382895.7",
"protein_id": "ENSP00000372351.3",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 1365,
"cds_start": 1678,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 7827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "ENST00000398261.6",
"protein_id": "ENSP00000381311.1",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 647,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 8465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "ENST00000503128.5",
"protein_id": "ENSP00000425761.1",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 647,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 8568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "ENST00000420906.6",
"protein_id": "ENSP00000399251.2",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 629,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 5109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "ENST00000514045.5",
"protein_id": "ENSP00000421681.1",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 629,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.1678_1679delGA",
"hgvs_p": null,
"transcript": "ENST00000312087.10",
"protein_id": "ENSP00000308780.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.1678_1679delGA",
"hgvs_p": null,
"transcript": "ENST00000353275.9",
"protein_id": "ENSP00000329167.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1777_1778delGA",
"hgvs_p": "p.Asp593fs",
"transcript": "NM_001440893.1",
"protein_id": "NP_001427822.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1398,
"cds_start": 1777,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 7659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "NM_001440892.1",
"protein_id": "NP_001427821.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1365,
"cds_start": 1678,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 7658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "NM_133330.3",
"protein_id": "NP_579877.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1365,
"cds_start": 1678,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 2172,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "NM_133331.3",
"protein_id": "NP_579878.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1365,
"cds_start": 1678,
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"cdna_start": 1992,
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"cdna_length": 7695,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "NM_133335.4",
"protein_id": "NP_579890.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1365,
"cds_start": 1678,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 7520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "ENST00000382891.9",
"protein_id": "ENSP00000372347.5",
"transcript_support_level": 5,
"aa_start": 560,
"aa_end": null,
"aa_length": 1365,
"cds_start": 1678,
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"cdna_start": 1817,
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"cdna_length": 7534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "NM_001440894.1",
"protein_id": "NP_001427823.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1326,
"cds_start": 1678,
"cds_end": null,
"cds_length": 3981,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "NM_001440895.1",
"protein_id": "NP_001427824.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1316,
"cds_start": 1678,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "NM_001440896.1",
"protein_id": "NP_001427825.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1298,
"cds_start": 1678,
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"cdna_start": 1857,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.709_710delGA",
"hgvs_p": "p.Asp237fs",
"transcript": "NM_001440899.1",
"protein_id": "NP_001427828.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1042,
"cds_start": 709,
"cds_end": null,
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"cdna_start": 1694,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.709_710delGA",
"hgvs_p": "p.Asp237fs",
"transcript": "NM_001440900.1",
"protein_id": "NP_001427829.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1042,
"cds_start": 709,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 7664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
"hgvs_p": "p.Asp560fs",
"transcript": "NM_133334.3",
"protein_id": "NP_579889.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 647,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1678_1679delGA",
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}